Full data view for gene TP53

The variants shown are described using the NM_000546.5 transcript reference sequence.

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.

Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.

DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.

Published as: Variant as originally reported (e.g. 521delT); listed only when different from "DNA change". Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G).

RNA change: Description of variant at RNA level (following HGVS recommendations).

r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription

Protein: Description of variant at protein level (following HGVS recommendations).

p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced

GVS function: The functional annotation of this position from the Genome Variation Server.
All options:

intergenic
near-gene-5
utr-5
start-lost
coding
non-coding-exon
coding-near-splice
non-coding-exon-near-splice
coding-synonymous
coding-synonymous-near-splice
codingComplex
codingComplex-near-splice
frameshift
frameshift-near-splice
missense
missense-near-splice
splice-5
splice
non-coding-intron-near-splice
intron
splice-3
stop-gained
stop-gained-near-splice
stop-lost
stop-lost-near-splice
utr-3
near-gene-3

Clinical classification: Clinical classification of variant

Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.

DNA change (genomic) (hg38): Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).

g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup

Published as: Variant as originally reported (e.g. 521delT); listed only when different from "DNA change". Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G).

Reference: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".

DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.

dbSNP ID: The dbSNP ID.

Frequency: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).

Variant remarks: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.

Template: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:

DNA
RNA = RNA (cDNA)
Protein
? = unknown

Technique: Technique(s) used to identify the sequence variant.
All options:

? = Unknown
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting

Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Gender: The gender of the reported individual.
All options:

? = Unknown
F = Female
M = Male
rF = Raised as female
rM = Raised as male

Geographic origin: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Population: Additional information on the individual's population.

Remarks: Remarks about the individual.

Microattribution: An acknowledgment to data contributor to this database.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

74 entries on 1 page. Showing entries 1 - 74.

Legend

How to query

Effect	Exon	DNA change (cDNA)	Published as	RNA change	Protein	GVS function	Clinical classification	Allele	DNA change (genomic) (hg38)	Published as	Reference	DB-ID	dbSNP ID	Frequency	Variant remarks	Template	Technique	Disease	Reference	Gender	Geographic origin	Ethnic origin	Population	Remarks	Microattribution	Panel size	Owner
./.	2i	c.74+14T>C	-	r.(=)	p.(=)	-	ClinVar	Unknown	g.7676507A>G	-	Daphne S C Lee et al. (2012)dbSNP	TP53_000054	rs184743157	1/4	-	DNA	SEQ	Breast cancer	Daphne S C Lee et al. (2012)	-	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
-?/.	3i	c.97-28T>A	-	r.(=)	p.(=)	-	ClinVar	Unknown	g.7676300A>T	-	Daphne S C Lee et al. (2012), dbSNP , ClinVar	TP53_000055	rs200989844	1/4	-	DNA	SEQ	Breast cancer	Daphne S C Lee et al. (2012)	-	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	4	c.337_339del	-	r.(?)	p.(Phe113del)	-	-	Unknown	g.7676030_7676032del	F113del	Sharifah Nurain Syed Zanaruddin et al. (2013)	TP53_000001	rs587777801	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	4	c.370T>C	-	r.(?)	p.(Cys124Arg)	-	-	Unknown	g.7675999A>G	C124R	Sharifah Nurain Syed Zanaruddin et al. (2013)	TP53_000002	rs121909223	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.380C>T	-	r.(?)	p.(Ser127Phe)	missense	Likely pathogenic	Unknown	g.7675232G>A	S127F, S88F	dbSNP, ClinVar	TP53_000057	rs730881999	1/10	-	DNA	SEQ	CRC	Ryia-Illani Mohd Yunos et al. (2019)	F	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	5	c.413C>T	-	r.(?)	p.(Ala138Val)	-	ClinVar	Unknown	g.7675199G>A	p. A138V	Daphne S C Lee et al. (2012), dbSNP, ClinVar	TP53_000053	rs750600586	1/4	-	DNA	SEQ	Breast cancer	Daphne S C Lee et al. (2012)	-	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	5	c.454C>T	-	r.(?)	p.(Pro152Ser)	-	ClinVar	Unknown	g.7675158G>A	P152S	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000003	rs767328513	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	5	c.455del	-	r.(?)	p.(Pro152Argfs*18)	-	ClinVar	Unknown	g.7675157del	c.455delC	Xiaohong R Yang et al. (2013)dbSNP	TP53_000028	rs730882019	1/2	-	DNA	MLPA, SEQ	Breast cancer	Xiaohong R Yang et al. (2013)	F	Malaysia	-	Sarawak	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	5	c.470T>G	-	r.(?)	p.(Val157Gly)	-	-	Unknown	g.7675142A>C	V157G	Sharifah Nurain Syed Zanaruddin et al. (2013)	TP53_000004	-	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.472C>T	-	r.(?)	p.(Arg158Cys)	missense	Likely pathogenic	Unknown	g.7675140G>A	-	dbSNP, ClinVar	TP53_000059	rs587780068	1/10	-	DNA	SEQ	CRC	Ryia-Illani Mohd Yunos et al. (2019)	M	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	5	c.488A>G	-	r.(?)	p.(Tyr163Cys)	-	ClinVar	Unknown	g.7675124T>C	7578442T>C / Y163C	Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar	TP53_000032	rs148924904	1/10	-	DNA	SEQ-NG, PCR	HGSOC	Nurul-Syakima Ab Mutalib et al. (2014)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	5	c.524G>A	-	r.(?)	p.(Arg175His)	-	ClinVar	Unknown	g.7675088C>T	R175H	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, (OMIM 0030), ClinVar	TP53_000005	rs28934578	2/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	5	c.524G>A	-	r.(?)	p.(Arg175His)	-	ClinVar	Unknown	g.7675088C>T	7578406C > T	Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, (OMIM 0030), ClinVar	TP53_000005	rs28934578	2/10	-	DNA	SEQ-NG, PCR	HGSOC	Nurul-Syakima Ab Mutalib et al. (2014)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+?/.	5	c.527G>T	-	r.(?)	p.(Cys176Phe)	-	ClinVar	Unknown	g.7675085C>A	C176F	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000006	rs786202962	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	5	c.536A>G	-	r.(?)	p.(His179Arg)	-	ClinVar	Unknown	g.7675076T>C	H179R	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000007	rs1057519991	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	5	c.548C>G	-	r.(?)	p.(Ser183*)	-	ClinVar	Unknown	g.7675064G>C	S183*	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000008	rs1555525970	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	6	c.578A>G	-	r.(?)	p.(His193Arg)	-	ClinVar	Unknown	g.7674953T>C	7578271T > C / H193R	Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar	TP53_000029	rs786201838	1/10	-	DNA	SEQ-NG, PCR	HGSOC	Nurul-Syakima Ab Mutalib et al. (2014)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.586C>T	-	r.(?)	p.(Arg196*)	-	Pathogenic	Unknown	g.7674945G>A	R64X, R37X, R196X, R157X	dbSNP, ClinVar	TP53_000042	rs397516435	1/10	-	DNA	SEQ	CRC	Ryia-Illani Mohd Yunos et al. (2019)	F	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	6	c.586C>T	-	r.(?)	p.(Arg196*)	-	ClinVar	Unknown	g.7674945G>A	-	A Jafri et al. (2003), dbSNP, ClinVar	TP53_000042	rs397516435	1/33	-	DNA	PCR, SEQ, SSCA	Gliomas	A Jafri et al. (2003)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	6	c.586C>T	-	r.(?)	p.(Arg196*)	-	ClinVar	Unknown	g.7674945G>A	R196*	A A Yusoff et al. (2004), dbSNP, ClinVar	TP53_000042	rs397516435	1/47	-	DNA	PCR, SSCA	Gliomas	A A Yusoff et al. (2004)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	6	c.589G>T	-	r.(?)	p.(Val197Leu)	-	ClinVar	Unknown	g.7674942C>A	-	A Jafri et al. (2003), dbSNP, ClinVar	TP53_000039	rs786204041	1/33	-	DNA	PCR, SEQ, SSCA	Gliomas	A Jafri et al. (2003)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	6	c.589G>T	-	r.(?)	p.(Val197Leu)	-	ClinVar	Unknown	g.7674942C>A	V197L	A A Yusoff et al. (2004)dbSNP	TP53_000039	rs786204041	1/47	-	DNA	PCR, SSCA	Gliomas	A A Yusoff et al. (2004)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	6	c.590_591delinsCC	-	r.(?)	p.(Val197Ala)	-	-	Unknown	g.7674940_7674941delinsGG	V197A	A A Yusoff et al. (2004)	TP53_000036	-	1/47	-	DNA	PCR, SSCA	Gliomas	A A Yusoff et al. (2004)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.596G>T	-	r.(?)	p.(Gly199Val)	-	rs1555525857	Unknown	g.7674935C>A	G199V	dbSNP, ClinVar	TP53_000047	rs1555525857	1/2	-	DNA	IHC, SEQ-NG	CRC	Chai Boon Lee et al. 2019 (https://medic.upm.edu.my/upload/dokumen/2019100109012514_MJMHS_0054.pdf)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+?/.	6	c.614A>G	-	r.(?)	p.(Tyr205Cys)	-	ClinVar	Unknown	g.7674917T>C	Y205C	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000009	rs1057520007	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	6	c.638G>C	-	r.(?)	p.(Arg213Pro)	-	ClinVar	Unknown	g.7674893C>G	R213P	A A Yusoff et al. (2004), dbSNP, ClinVar	TP53_000043	rs587778720	1/47	-	DNA	PCR, SSCA	Gliomas	A A Yusoff et al. (2004)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	6	c.659A>G	-	r.(?)	p.(Tyr220Cys)	-	ClinVar	Unknown	g.7674872T>C	7578190T > C / Y220C	Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar	TP53_000030	rs121912666	2/10	-	DNA	SEQ-NG, PCR	HGSOC	Nurul-Syakima Ab Mutalib et al. (2014)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	6i	c.672+18G>C	-	r.(=)	p.(=)	-	ClinVar	Unknown	g.7674841C>G	-	Daphne S C Lee et al. (2012), dbSNP,{ClinVar:ClinVar}	TP53_000051	rs199578278	1/3	-	DNA	SEQ	Breast cancer	Daphne S C Lee et al. (2012)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	7	c.683A>C	-	r.(?)	p.(Asp228Ala)	-	-	Unknown	g.7674280T>G	D228A	A A Yusoff et al. (2004)	TP53_000046	rs879254642	1/47	-	DNA	PCR, SSCA	Gliomas	A A Yusoff et al. (2004)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	7	c.683A>C	-	r.(?)	p.(Asp228Ala)	-	-	Unknown	g.7674280T>G	-	A Jafri et al. (2003)	TP53_000046	-	1/33	-	DNA	PCR, SEQ, SSCA	Gliomas	A Jafri et al. (2003)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	7	c.693C>G	-	r.(=)	p.(=)	-	-	Unknown	g.7674270G>C	T231T	A A Yusoff et al. (2004)	TP53_000040	rs1570499154	1/47	-	DNA	PCR, SSCA	Gliomas	A A Yusoff et al. (2004)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	7	c.693C>G	-	r.(=)	p.(=)	-	-	Unknown	g.7674270G>C	-	A Jafri et al. (2003)	TP53_000040	rs1570499154	1/33	-	DNA	PCR, SEQ, SSCA	Gliomas	A Jafri et al. (2003)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	7	c.700T>C	-	r.(?)	p.(Tyr234His)	-	ClinVar	Unknown	g.7674263A>G	7577581A>G / Y234H	Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar	TP53_000034	rs864622237	1/10	-	DNA	SEQ-NG, PCR	HGSOC	Nurul-Syakima Ab Mutalib et al. (2014)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	7	c.701A>G	-	r.(?)	p.(Tyr234Cys)	-	ClinVar	Unknown	g.7674262T>C	Y234C	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000010	rs587780073	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	7	c.702C>G	-	r.(?)	p.(Tyr234*)	-	-	Unknown	g.7674261G>C	Y234*	Sharifah Nurain Syed Zanaruddin et al. (2013)	TP53_000011	-	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+?/.	7	c.710T>A	-	r.(?)	p.(Met237Lys)	-	ClinVar	Unknown	g.7674253A>T	M237K	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000013	rs765848205	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	7	c.711G>A	-	r.(?)	p.(Met237Ile)	-	ClinVar	Unknown	g.7674252C>T	M237I	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000012	rs587782664	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	7	c.731G>A	-	r.(?)	p.(Gly244Asp)	-	ClinVar	Unknown	g.7674232C>T	G244D	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000014	rs985033810	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+?/.	7	c.737T>A	-	r.(?)	p.(Met246Lys)	-	ClinVar	Unknown	g.7674226A>T	M246K	A A Yusoff et al. (2004)dbSNP	TP53_000035	rs587780074	1/47	-	DNA	PCR, SSCA	Gliomas	A A Yusoff et al. (2004)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+?/.	7	c.737T>A	-	r.(?)	p.(Met246Lys)	-	ClinVar	Unknown	g.7674226A>T	-	A Jafri et al. (2003), dbSNP, ClinVar	TP53_000035	rs587780074	1/33	-	DNA	PCR, SEQ, SSCA	Gliomas	A Jafri et al. (2003)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	7	c.742C>T	-	r.(?)	p.(Arg248Trp)	-	ClinVar	Unknown	g.7674221G>A	R254 W	Xiaohong R Yang et al. (2013), dbSNP, (OMIM 0001), ClinVar	TP53_000016	rs121912651	1/2	-	DNA	MLPA, SEQ	Breast cancer	Xiaohong R Yang et al. (2013)	F	Malaysia	-	Sarawak	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	7	c.742C>T	-	r.(?)	p.(Arg248Trp)	-	ClinVar	Unknown	g.7674221G>A	R248W	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, (OMIM 0001), ClinVar	TP53_000016	rs121912651	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	7	c.743G>A	-	r.(?)	p.(Arg248Gln)	-	ClinVar	Unknown	g.7674220C>T	R248Q	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000015	rs11540652	2/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	7	c.746G>A	-	r.(?)	p.(Arg249Lys)	-	ClinVar	Unknown	g.7674217C>T	R249K	A A Yusoff et al. (2004), dbSNP, ClinVar	TP53_000041	rs587782329	1/47	-	DNA	PCR, SSCA	Gliomas	A A Yusoff et al. (2004)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	7	c.746G>A	-	r.(?)	p.(Arg249Lys)	-	ClinVar	Unknown	g.7674217C>T	-	A Jafri et al. (2003), dbSNP, ClinVar	TP53_000041	rs587782329	2/33	-	DNA	PCR, SEQ, SSCA	Gliomas	A Jafri et al. (2003)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+?/.	-	c.775G>T	-	r.(?)	p.(Asp259Tyr)	-	ClinVar	Unknown	g.7674188C>A	D259Y	dbSNP, dbSNP, ClinVar	TP53_000048	rs1567548929	1	-	DNA	IHC, SEQ-NG	CRC	Chai Boon Lee et al. 2019 (https://medic.upm.edu.my/upload/dokumen/2019100109012514_MJMHS_0054.pdf)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	8	c.793C>T	-	r.(=)	p.(=)	-	-	Unknown	g.7673827G>A	-	A Jafri et al. (2003)	TP53_000056	rs879253921	1/33	-	DNA	PCR, SEQ, SSCA	Gliomas	A Jafri et al. (2003)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	8	c.794T>G	-	r.(?)	p.(Leu265Arg)	-	-	Unknown	g.7673826A>C	L265R	A A Yusoff et al. (2004)	TP53_000038	rs104895316	1/47	-	DNA	PCR, SSCA	Gliomas	A A Yusoff et al. (2004)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	8	c.794T>G	-	r.(?)	p.(Leu265Arg)	-	-	Unknown	g.7673826A>C	-	A Jafri et al. (2003)	TP53_000038	rs104895316	1/33	-	DNA	PCR, SEQ, SSCA	Gliomas	A Jafri et al. (2003)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	8	c.798A>C	-	r.(=)	p.(=)	-	-	Unknown	g.7673822T>G	G266G	A A Yusoff et al. (2004)	TP53_000037	rs756044708	1/47	-	DNA	PCR, SSCA	Gliomas	A A Yusoff et al. (2004)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	8	c.798A>C	-	r.(=)	p.(=)	-	-	Unknown	g.7673822T>G	-	A Jafri et al. (2003)	TP53_000037	rs1581616753	1/33	-	DNA	PCR, SEQ, SSCA	Gliomas	A Jafri et al. (2003)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.800G>A	-	r.(?)	p.(Arg267Gln)	missense	Uncertain significance	Unknown	g.7673820C>T	R135Q, G323A, R108Q, R267Q, R228Q	dbSNP, ClinVar	TP53_000058	rs587780075	1/10	-	DNA	SEQ	CRC	Ryia-Illani Mohd Yunos et al. (2019)	M	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	8	c.809T>C	-	r.(?)	p.(Phe270Ser)	-	ClinVar	Unknown	g.7673811A>G	F270S	A A Yusoff et al. (2004), dbSNP, ClinVar	TP53_000044	rs1057519986	1/47	-	DNA	PCR, SSCA	Gliomas	A A Yusoff et al. (2004)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	8	c.817C>T	-	r.(?)	p.(Arg273Cys)	-	ClinVar	Unknown	g.7673803G>A	R273C	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000017	rs121913343	3/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.817C>T	-	r.(?)	p.(Arg273Cys)	missense	Pathogenic/Likely pathogenic	Unknown	g.7673803G>A	-	dbSNP, ClinVar	TP53_000017	rs121913343	1/10	-	DNA	SEQ	CRC	Ryia-Illani Mohd Yunos et al. (2019)	M	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	8	c.817_820del	-	r.(?)	p.(Arg273Phefs*71)	-	-	Unknown	g.7673800_7673803del	CTGG, 4 bp-deletion	A A Yusoff et al. (2004)	TP53_000045	rs1564752665	1/47	-	DNA	PCR, SSCA	Gliomas	A A Yusoff et al. (2004)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	8	c.831_857del	-	r.(?)	p.(Cys277*)	-	-	Unknown	g.7673763_7673789del	831_857del24	Sharifah Nurain Syed Zanaruddin et al. (2013)	TP53_000018	-	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	8	c.832C>T	-	r.(?)	p.(Pro278Ser)	-	ClinVar	Unknown	g.7673788G>A	P278S	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000019	rs17849781	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	8	c.844C>G	-	r.(?)	p.(Arg282Gly)	-	ClinVar	Unknown	g.7673776G>C	7577094G>C / R282G	Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar	TP53_000033	rs28934574	1/10	-	DNA	SEQ-NG, PCR	HGSOC	Nurul-Syakima Ab Mutalib et al. (2014)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.844C>T	-	r.(?)	p.(Arg282Trp)	-	ClinVar	Unknown	g.7673776G>A	R282W	dbSNP, (OMIM 0018), ClinVar	TP53_000020	rs28934574	1/2	-	DNA	IHC, SEQ-NG	CRC	Chai Boon Lee et al. 2019 (https://medic.upm.edu.my/upload/dokumen/2019100109012514_MJMHS_0054.pdf)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	8	c.844C>T	-	r.(?)	p.(Arg282Trp)	-	ClinVar	Unknown	g.7673776G>A	R282W	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, (OMIM 0018), ClinVar	TP53_000020	rs28934574	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	8	c.853G>A	-	r.(?)	p.(Glu285Lys)	-	ClinVar	Unknown	g.7673767C>T	p. E285K	Daphne S C Lee et al. (2012), dbSNP, ClinVar	TP53_000052	rs112431538	1/4	-	DNA	SEQ	Breast cancer	Daphne S C Lee et al. (2012)	-	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	8	c.856G>A	-	r.(?)	p.(Glu286Lys)	-	ClinVar	Unknown	g.7673764C>T	E286K	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000021	rs786201059	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	8	c.876del	-	r.(?)	p.(Glu294Serfs*51)	-	-	Unknown	g.7673744del	876delA	Sharifah Nurain Syed Zanaruddin et al. (2013)	TP53_000022	rs1557136332	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	8	c.903A>G	-	r.(=)	p.(=)	-	ClinVar	Unknown	g.7673717T>C	7577035T>C	Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar	TP53_000031	rs72661120	2/10	-	DNA	SEQ-NG, PCR	HGSOC	Nurul-Syakima Ab Mutalib et al. (2014)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	8	c.916C>T	-	r.(?)	p.(Arg306*)	-	ClinVar	Unknown	g.7673704G>A	R306*	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000023	rs121913344	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.916C>T	-	r.(?)	p.(Arg306*)	-	Pathogenic	Unknown	g.7673704G>A	R174X, R147X, R306X, R267X	dbSNP, ClinVar	TP53_000023	rs121913344	1/10	-	DNA	SEQ	CRC	Ryia-Illani Mohd Yunos et al. (2019)	F	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	9	c.960del	-	r.(?)	p.(Lys321Asnfs*24)	-	-	Unknown	g.7673568del	960delG	Sharifah Nurain Syed Zanaruddin et al. (2013)	TP53_000024	rs1555524370	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	10	c.1001_1006dup	-	r.(?)	p.(Gly334_Arg335dup)	-	-	Unknown	g.7670703_7670708dup	G334_R335dup	Daphne S C Lee et al. (2012)	TP53_000050	-	1/3	-	DNA	SEQ	Breast cancer	Daphne S C Lee et al. (2012)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	10	c.1006G>T	-	r.(?)	p.(Glu336*)	-	-	Unknown	g.7670703C>A	E336*	Sharifah Nurain Syed Zanaruddin et al. (2013)	TP53_000025	rs1553769428	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	10	c.1013_1014insT	-	r.(?)	p.(Glu339Argfs*8)	-	-	Unknown	g.7670695_7670696insA	F338fs*8	Sharifah Nurain Syed Zanaruddin et al. (2013),	TP53_000026	-	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	10	c.1024C>T	-	r.(?)	p.(Arg342*)	-	ClinVar	Unknown	g.7670685G>A	R342*	Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar	TP53_000027	rs730882029	1/31	-	DNA	PCR, SEQ	OSCC	Sharifah Nurain Syed Zanaruddin et al. (2013)	?	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	10	c.1036G>T	-	r.(?)	p.(Glu346*)	-	ClinVar	Unknown	g.7670673C>A	E346X	Daphne S C Lee et al. (2012), dbSNP, ClinVar	TP53_000049	rs1567542019	1/3	-	DNA	SEQ	Breast cancer	Daphne S C Lee et al. (2012)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	4	c.*7657470C>G	-	r.(=)	p.(=)	-	-	Unknown	g.12139G>C	-	A R Ghani et al.(2008)	TP53_000060	-	-	-	DNA	PCR, SEQ	Cerebral Supratentorial Ependymomas	A R Ghani et al.(2008)	M	Malaysia	Malay	-	-	-	1	Nur Aisyah Athirah

Legend

How to query

Malaysian Node of the Human Variome Project Database

TP53 (tumor protein p53)