Full data view for gene G6PD

The variants shown are described using the 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.

69 entries on 1 page. Showing entries 1 - 69.

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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
+/.	-	c.138G>A	-	r.(=)	p.(=)	-	-	Unknown	g.154546108C>T	-	Feiliang Wong et al.(2013)	G6PD_000025	rs1246261002	-	-	DNA	SEQ, TaqMan	Neonatal Hyperbilirubinemia	Feiliang Wong et al.(2013)	-	(Seremban, Negeri Sembilan)	-	-	-	-	1	Nur Aisyah Athirah
+/.	-	c.185A>G	G6PD Gaohe	r.(?)	p.(His62Arg)	-	ClinVar	Unknown	g.154546061T>C	G6PD Gaohe	Jichun Wang et al. (2008), dbSNP, (OMIM 0044), ClinVar	G6PD_000011	rs137852340	1/8	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.185A>G	G6PD Gaohe	r.(?)	p.(His62Arg)	-	ClinVar	Unknown	g.154546061T>C	G6PD Gaohe	M F Alina et al. (2020), dbSNP, (OMIM 0044), ClinVar	G6PD_000011	rs137852340	3/98	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.185A>G	G6PD Gaohe	r.(?)	p.(His62Arg)	-	ClinVar	Unknown	g.154546061T>C	G6PD Gaohe	O Ainoon et al. (1999), dbSNP, (OMIM 0044), ClinVar	G6PD_000011	rs137852340	2/38	-	DNA	PCRm	G6PD	O Ainoon et al. (1999)	-	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.221C>G	G6PD Orissa	r.(?)	p.(Ala74Gly)	-	ClinVar	Unknown	g.154536168G>C	G6PD Orissa	Narazah Mohd Yusoff et al. (2002), dbSNP, (OMIM 0047), ClinVar	G6PD_000007	rs78478128	2/73	-	DNA	PCRm	G6PD	Narazah Mohd Yusoff et al. (2002)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	-	c.221C>G	-	r.(?)	p.(Ala74Gly)	-	ClinVar	Unknown	g.154536168G>C	-	O Ainoon et al. (2003), dbSNP, (OMIM 0047), ClinVar	G6PD_000007	rs78478128	1/86	-	DNA	PCR	G6PD	O. Ainoon et al.(2003)	-	-	-	-	-	-	1	MyHVP
+/.	-	c.221C>G	G6PD Orissa	r.(?)	p.(Ala74Gly)	-	ClinVar	Unknown	g.154536168G>C	G6PD Orissa	M F Alina et al. (2020), dbSNP, (OMIM 0047), ClinVar	G6PD_000007	rs78478128	12/98	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.221C>G	G6PD Orissa	r.(?)	p.(Ala74Gly)	-	ClinVar	Unknown	g.154536168G>C	G6PD Orissa	M F Alina et al. (2020), dbSNP, (OMIM 0047), ClinVar	G6PD_000007	rs78478128	1/36	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.298T>C	G6PD Namoru	r.(?)	p.(Tyr100His)	-	ClinVar	Unknown	g.154535996A>G	G6PD Namoru	Jichun Wang et al. (2008), dbSNP, (OMIM 0061)	G6PD_000014	rs137852349	1/5	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Indian	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	5	c.482G>T	G6PD Quing Yuan	r.(?)	p.(Gly161Val)	-	ClinVar	Unknown	g.154535261C>A	G6PD Quing Yuan	M F Alina et al. (2020), dbSNP, (OMIM 0045), ClinVar	G6PD_000015	rs137852341	1/98	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	6	c.577G>A	G6PD Mahidol	r.(?)	p.(Gly193Ser)	-	ClinVar	Unknown	g.154534495C>T	G6PD Mahidol	M F Alina et al. (2020), dbSNP, (OMIM 0005), ClinVar	G6PD_000003	rs137852314	1/26	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	6	c.577G>A	G6PD Mahidol	r.(?)	p.(Gly193Ser)	-	ClinVar	Unknown	g.154534495C>T	G6PD Mahidol	Jichun Wang et al. (2008), dbSNP, (OMIM 0005), ClinVar	G6PD_000003	rs137852314	5/15	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	6	c.577G>A	G6PD Mahidol	r.(?)	p.(Gly193Ser)	-	ClinVar	Both (homozygous)	g.154534495C>T	G6PD Mahidol	M F Alina et al. (2020), dbSNP, (OMIM 0005), ClinVar	G6PD_000003	rs137852314	12/36	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	6	c.577G>A	G6PD Mahidol	r.(?)	p.(Gly193Ser)	-	ClinVar	Unknown	g.154534495C>T	G6PD Mahidol	M F Alina et al. (2020), dbSNP, (OMIM 0005), ClinVar	G6PD_000003	rs137852314	14/98	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	6	c.577G>A	-	r.(?)	p.(Gly193Ser)	-	ClinVar	Unknown	g.154534495C>T	-	O. Ainoon et al.(2003)dbSNP	G6PD_000003	rs137852314	86	-	-	-	-	-	-	-	-	-	-	-	-	-
+/.	6	c.577G>A	-	r.(?)	p.(Gly193Ser)	-	ClinVar	Unknown	g.154534495C>T	-	O Ainoon et al. (2003), dbSNP, (OMIM 0005), ClinVar	G6PD_000003	rs137852314	13/86	-	DNA	PCR	G6PD	O. Ainoon et al.(2003)	-	-	-	-	-	-	1	MyHVP
+/.	6	c.577G>A	G6PD Mahidol	r.(?)	p.(Gly193Ser)	-	ClinVar	Unknown	g.154534495C>T	G6PD Mahidol	Narazah Mohd Yusoff et al. (2002), dbSNP, (OMIM 0005), ClinVar	G6PD_000003	rs137852314	6/73	-	DNA	PCRm	G6PD	Narazah Mohd Yusoff et al. (2002)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	6	c.653C>T	G6PD Mediterranean	r.(?)	p.(Ser218Phe)	-	ClinVar	Unknown	g.154534419G>A	G6PD Mediterranean	M F Alina et al. (2020), dbSNP, (OMIM 0006), ClinVar	G6PD_000002	rs5030868	3/36	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	6	c.653C>T	G6PD Mediterranean	r.(?)	p.(Ser218Phe)	-	ClinVar	Unknown	g.154534419G>A	G6PD Mediterranean	M F Alina et al. (2020), dbSNP, (OMIM 0006), ClinVar	G6PD_000002	rs5030868	17/98	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	6	c.653C>T	G6PD Mediterranean	r.(?)	p.(Ser218Phe)	-	ClinVar	Unknown	g.154534419G>A	G6PD Mediterranean	Narazah Mohd Yusoff et al. (2002), dbSNP, (OMIM 0006), ClinVar	G6PD_000002	rs5030868	7/20	-	DNA	PCRm	G6PD	Narazah Mohd Yusoff et al. (2002)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	6	c.653C>T	-	r.(?)	p.(Ser218Phe)	-	ClinVar	Unknown	g.154534419G>A	-	O Ainoon et al. (2003), dbSNP, (OMIM 0006), ClinVar	G6PD_000002	rs5030868	23/86	-	DNA	PCR	G6PD	O. Ainoon et al.(2003)	-	-	-	-	-	-	1	MyHVP
+/.	6	c.653C>T	G6PD Mediterranean	r.(?)	p.(Ser218Phe)	-	ClinVar	Unknown	g.154534419G>A	G6PD Mediterranean	Narazah Mohd Yusoff et al. (2002), dbSNP, (OMIM 0006), ClinVar	G6PD_000002	rs5030868	11/73	-	DNA	PCRm	G6PD	Narazah Mohd Yusoff et al. (2002)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	6	c.653C>T	-	r.(?)	p.(Ser218Phe)	-	ClinVar	Unknown	g.154534419G>A	-	O. Ainoon et al.(2003)dbSNP	G6PD_000002	rs5030868	86	-	-	-	-	-	-	-	-	-	-	-	-	-
+/.	6	c.653C>T	G6PD Mediterranean	r.(?)	p.(Ser218Phe)	-	ClinVar	Unknown	g.154534419G>A	G6PD Mediterranean	Jichun Wang et al. (2008), dbSNP, (OMIM 0006), ClinVar	G6PD_000002	rs5030868	1/5	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Indian	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.682C>T	G6PD Coimbra	r.(?)	p.(Arg228Cys)	-	ClinVar	Unknown	g.154534390G>A	G6PD Coimbra	Jichun Wang et al. (2008), dbSNP, (OMIM 0031), ClinVar	G6PD_000006	rs137852330	2/5	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Orang Asli	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.682C>T	G6PD Coimbra	r.(?)	p.(Arg228Cys)	-	ClinVar	Unknown	g.154534390G>A	G6PD Coimbra	Jichun Wang et al. (2008)dbSNP(OMIM 0031)ClinVar	G6PD_000006	rs137852330	1/15	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.682C>T	G6PD Coimbra	r.(?)	p.(Arg228Cys)	-	ClinVar	Unknown	g.154534390G>A	G6PD Coimbra	F Amini et al. (2011), dbSNP, (OMIM 0031), ClinVar	G6PD_000006	rs137852330	1/25	-	DNA	PCRm	G6PD	F Amini et al. (2011)	-	Malaysia	Orang Asli	Negrito	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.682C>T	G6PD Coimbra	r.(?)	p.(Arg228Cys)	-	ClinVar	Unknown	g.154534390G>A	G6PD Coimbra	Narazah Mohd Yusoff et al. (2002), dbSNP, (OMIM 0031), ClinVar	G6PD_000006	rs137852330	4/73	-	DNA	PCRm	G6PD	Narazah Mohd Yusoff et al. (2002)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.682C>T	G6PD Coimbra	r.(?)	p.(Arg228Cys)	-	ClinVar	Unknown	g.154534390G>A	G6PD Coimbra	Narazah Mohd Yusoff et al. (2002), dbSNP, (OMIM 0031), ClinVar	G6PD_000006	rs137852330	1/20	-	DNA	PCRm	G6PD	Narazah Mohd Yusoff et al. (2002)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.682C>T	G6PD Coimbra	r.(?)	p.(Arg228Cys)	-	ClinVar	Unknown	g.154534390G>A	G6PD Coimbra	M F Alina et al. (2020), dbSNP, (OMIM 0031), ClinVar	G6PD_000006	rs137852330	3/36	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.682C>T	G6PD Coimbra	r.(?)	p.(Arg228Cys)	-	ClinVar	Unknown	g.154534390G>A	G6PD Coimbra	M F Alina et al. (2020), dbSNP, (OMIM 0031), ClinVar	G6PD_000006	rs137852330	5/98	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	-	c.682C>T	-	r.(?)	p.(Arg228Cys)	-	ClinVar	Unknown	g.154534390G>A	-	O Ainoon et al. (2003), dbSNP, (OMIM 0031), ClinVar	G6PD_000006	rs137852330	3/86	-	DNA	PCR	G6PD	O. Ainoon et al.(2003)	-	-	-	-	-	-	1	MyHVP
+/.	-	c.961G>A	G6PD Viangchan	r.(?)	p.(Val321Met)	-	ClinVar	Unknown	g.154533122C>T	G6PD Viangchan	M F Alina et al. (2020), dbSNP, (OMIM 0026), ClinVar	G6PD_000001	rs137852327	9/36	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.961G>A	G6PD Viangchan	r.(?)	p.(Val321Met)	-	ClinVar	Unknown	g.154533122C>T	G6PD Viangchan	M F Alina et al. (2020), dbSNP, (OMIM 0026), ClinVar	G6PD_000001	rs137852327	16/98	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.961G>A	G6PD Viangchan	r.(?)	p.(Val321Met)	-	ClinVar	Unknown	g.154533122C>T	G6PD Viangchan	Jichun Wang et al. (2008), dbSNP, (OMIM 0026), ClinVar	G6PD_000001	rs137852327	4/15	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	-	c.961G>A	G6PD Viangchan	r.(?)	p.(Val321Met)	-	ClinVar	Unknown	g.154533122C>T	G6PD Viangchan	Narazah Mohd Yusoff et al. (2002)dbSNPClinVar	G6PD_000001	rs137852327	4/20	-	DNA	PCRm	G6PD	Narazah Mohd Yusoff et al. (2002)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.961G>A	G6PD Viangchan	r.(?)	p.(Val321Met)	-	ClinVar	Unknown	g.154533122C>T	G6PD Viangchan	Jichun Wang et al. (2008), dbSNP, (OMIM 0026), ClinVar	G6PD_000001	rs137852327	1/8	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.961G>A	G6PD Viangchan	r.(?)	p.(Val321Met)	-	ClinVar	Both (homozygous)	g.154533122C>T	G6PD Viangchan	M F Alina et al. (2020), dbSNP, (OMIM 0026), ClinVar	G6PD_000001	rs137852327	2/36	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
./.	-	c.961G>A	G6PD Viangchan	r.(?)	p.(Val321Met)	-	ClinVar	Unknown	g.154533122C>T	G6PD Viangchan	F Amini et al. (2011), dbSNP, (OMIM 0026), ClinVar	G6PD_000001	rs137852327	3/25	-	DNA	PCRm	G6PD	F Amini et al. (2011)	-	Malaysia	Orang Asli	Negrito	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.961G>A	G6PD Viangchan	r.(?)	p.(Val321Met)	-	ClinVar	Unknown	g.154533122C>T	G6PD Viangchan	Narazah Mohd Yusoff et al. (2002)dbSNPClinVar	G6PD_000001	rs137852327	23/73	-	DNA	PCRm	G6PD	Narazah Mohd Yusoff et al. (2002)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	9	c.961G>A	-	r.(?)	p.(Val321Met)	-	-	Unknown	g.154533122C>T	-	O. Ainoon et al.(2003)	G6PD_000001	rs149457059	32/86	-	DNA	PCR	G6PD	O. Ainoon et al.(2003)	-	-	-	-	-	-	1	MyHVP
+/.	-	c.961G>A	G6PD Viangchan	r.(?)	p.(Val321Met)	-	ClinVar	Unknown	g.154533122C>T	G6PD Viangchan	Jichun Wang et al. (2008), dbSNP, (OMIM 0026), ClinVar	G6PD_000001	rs137852327	2/5	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Orang Asli	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.1093G>A	G6PD Chatham	r.(?)	p.(Ala365Thr)	-	ClinVar	Unknown	g.154532990C>T	G6PD Chatham	M F Alina et al. (2020), dbSNP, (OMIM 0003), ClinVar	G6PD_000008	rs5030869	3/98	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	-	c.1093G>A	-	r.(?)	p.(Ala365Thr)	-	-	Unknown	g.154532990C>T	-	O Ainoon et al. (2003), dbSNP, (OMIM 0003), ClinVar	G6PD_000008	rs5030869	2/86	-	DNA	PCR	G6PD	O. Ainoon et al.(2003)	-	-	-	-	-	-	1	MyHVP
+/.	-	c.1093G>A	G6PD Chatham	r.(?)	p.(Ala365Thr)	-	ClinVar	Unknown	g.154532990C>T	G6PD Chatham	Narazah Mohd Yusoff et al. (2002), dbSNP, (OMIM 0003), ClinVar	G6PD_000008	rs5030869	1/73	-	DNA	PCRm	G6PD	Narazah Mohd Yusoff et al. (2002)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.1114C>T	-	r.(?)	p.(Leu372Phe)	-	ClinVar	Unknown	g.154532969G>A	-	O Ainoon et al. (1999), dbSNP, (OMIM 0046), ClinVar	G6PD_000012	rs137852342	1/38	-	DNA	PCRm	G6PD	O Ainoon et al. (1999)	-	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	9	c.1114C>T	1024 C>T	r.(?)	p.(Leu372Phe)	-	ClinVar	Unknown	g.154532969G>A	1024 C>T	O Ainoon et al. (2006)	G6PD_000012	rs137852342	-	-	DNA	PCR	G6PD	O Ainoon et al. (2006)	-	Malaysia	Chinese	-	-	-	1	Noorzalifah Binti Mazuki
+/.	11	c.1401T>C	G6PD RFLP	r.(=)	p.(=)	-	ClinVar	Unknown	g.154532439A>G	G6PD RFLP	Jichun Wang et al. (2008), dbSNP, (OMIM 0018), ClinVar	G6PD_000013	rs2230037	1/5	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Indian	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	11	c.1401T>C	G6PD RFLP	r.(=)	p.(=)	-	ClinVar	Unknown	g.154532439A>G	G6PD RFLP	Jichun Wang et al. (2008), dbSNP, (OMIM 0018), ClinVar	G6PD_000013	rs2230037	2/15	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	11	c.1401T>C	G6PD RFLP	r.(=)	p.(=)	-	ClinVar	Unknown	g.154532439A>G	G6PD RFLP	F Amini et al. (2011), dbSNP, (OMIM 0018), ClinVar	G6PD_000013	rs2230037	16/25	-	DNA	PCRm	G6PD	F Amini et al. (2011)	-	Malaysia	Orang Asli	Negrito	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	-	c.1451G>A	-	r.(?)	p.(Arg484His)	-	-	Unknown	g.154532389C>T	-	O Ainoon et al. (2003), dbSNP, (OMIM 0020), ClinVar	G6PD_000009	rs137852324	1/86	-	DNA	PCR	G6PD	O. Ainoon et al.(2003)	-	-	-	-	-	-	1	MyHVP
+/.	-	c.1466G>C	G6PD Canton	r.(?)	p.(Arg489Pro)	-	ClinVar	Unknown	g.154532269C>G	G6PD Canton	O Ainoon et al. (1999), dbSNP, (OMIM 0021), ClinVar	G6PD_000010	rs72554665	19/38	-	DNA	PCRm	G6PD	O Ainoon et al. (1999)	-	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.1466G>T	G6PD Canton	r.(?)	p.(Arg489Leu)	-	ClinVar	Unknown	g.154532269C>A	G6PD Canton	M F Alina et al. (2020), dbSNP, (OMIM 0021), ClinVar	G6PD_000004	rs72554665	12/98	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.1466G>T	G6PD Canton	r.(?)	p.(Arg489Leu)	-	ClinVar	Unknown	g.154532269C>A	G6PD Canton	Narazah Mohd Yusoff et al. (2002), dbSNP, (OMIM 0021), ClinVar	G6PD_000004	rs72554665	1/20	-	DNA	PCRm	G6PD	Narazah Mohd Yusoff et al. (2002)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.1466G>T	G6PD Canton	r.(?)	p.(Arg489Leu)	-	ClinVar	Unknown	g.154532269C>A	G6PD Canton	Jichun Wang et al. (2008), dbSNP, (OMIM 0021), ClinVar	G6PD_000004	rs72554665	2/8	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	-	c.1466G>T	-	r.(?)	p.(Arg489Leu)	-	-	Unknown	g.154532269C>A	-	O Ainoon et al. (2003), dbSNP, (OMIM 0021), ClinVar	G6PD_000004	rs72554665	4/86	-	DNA	PCR	G6PD	O. Ainoon et al.(2003)	-	-	-	-	-	-	1	MyHVP
+/.	-	c.1466G>T	G6PD Canton	r.(?)	p.(Arg489Leu)	-	ClinVar	Unknown	g.154532269C>A	G6PD Canton	Narazah Mohd Yusoff et al. (2002), dbSNP, (OMIM 0021), ClinVar	G6PD_000004	rs72554665	1/73	-	DNA	PCRm	G6PD	Narazah Mohd Yusoff et al. (2002)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.1466G>T	G6PD Canton	r.(?)	p.(Arg489Leu)	-	ClinVar	Unknown	g.154532269C>A	G6PD Canton	M F Alina et al. (2020), dbSNP, (OMIM 0021), ClinVar	G6PD_000004	rs72554665	3/36	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	12	c.1466G>T	-	r.(?)	p.(Arg489Leu)	-	ClinVar	Unknown	g.154532269C>A	-	O. Ainoon et al.(2003), dbSNP, ClinVar	G6PD_000004	rs72554665	86	-	-	-	-	-	-	-	-	-	-	-	-	-
+/.	-	c.1478G>A	G6PD Anant	r.(?)	p.(Arg493His)	-	ClinVar	Unknown	g.154532257C>T	G6PD Anant	O Ainoon et al. (1999), dbSNP, (OMIM 0029), ClinVar	G6PD_000005	rs72554664	13/38	-	DNA	PCRm	G6PD	O Ainoon et al. (1999)	-	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.1478G>A	G6PD Kaiping	r.(?)	p.(Arg493His)	-	ClinVar	Unknown	g.154532257C>T	G6PD Kaiping	Jichun Wang et al. (2008), dbSNP, (OMIM 0029), ClinVar	G6PD_000005	rs72554664	1/5	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Orang Asli	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.1478G>A	G6PD Kaiping	r.(?)	p.(Arg493His)	-	ClinVar	Unknown	g.154532257C>T	G6PD Kaiping	Jichun Wang et al. (2008), dbSNP, (OMIM 0029), ClinVar	G6PD_000005	rs72554664	2/5	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Indian	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.1478G>A	G6PD Kaiping	r.(?)	p.(Arg493His)	-	ClinVar	Unknown	g.154532257C>T	G6PD Kaiping	Narazah Mohd Yusoff et al. (2002)dbSNP, (OMIM 0029), ClinVar	G6PD_000005	rs72554664	5/73	-	DNA	PCRm	G6PD	Narazah Mohd Yusoff et al. (2002)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	12	c.1478G>A	-	r.(?)	p.(Arg493His)	-	ClinVar	Unknown	g.154532257C>T	-	O. Ainoon et al.(2003), dbSNP, ClinVar	G6PD_000005	rs72554664	86	-	-	-	-	-	-	-	-	-	-	-	-	-
+/.	-	c.1478G>A	G6PD Kaiping	r.(?)	p.(Arg493His)	-	ClinVar	Unknown	g.154532257C>T	G6PD Kaiping	Jichun Wang et al. (2008), dbSNP, (OMIM 0029), ClinVar	G6PD_000005	rs72554664	3/15	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Malay	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.1478G>A	G6PD Kaiping	r.(?)	p.(Arg493His)	-	ClinVar	Unknown	g.154532257C>T	G6PD Kaiping	Jichun Wang et al. (2008), dbSNP, (OMIM 0029), ClinVar	G6PD_000005	rs72554664	4/8	-	RNA	PCRm	G6PD	Jichun Wang et al. (2008)	-	Malaysia	Chinese	-	-	-	1	Nuur Athirah Binti Mohd Daud
?/.	-	c.1478G>A	-	r.(?)	p.(Arg493His)	-	-	Unknown	g.154532257C>T	-	O Ainoon et al. (2003), dbSNP, (OMIM 0029), ClinVar	G6PD_000005	rs72554664	2/86	-	DNA	PCR	G6PD	O. Ainoon et al.(2003)	-	-	-	-	-	-	1	MyHVP
+/.	-	c.1478G>A	G6PD Kaiping	r.(?)	p.(Arg493His)	-	ClinVar	Unknown	g.154532257C>T	G6PD Kaiping	M F Alina et al. (2020), dbSNP, (OMIM 0029), ClinVar	G6PD_000005	rs72554664	3/98	-	DNA	PCRm	G6PD	M F Alina et al. (2020)	M	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud
+/.	-	c.1478G>A	G6PD Kaiping	r.(?)	p.(Arg493His)	-	ClinVar	Unknown	g.154532257C>T	G6PD Kaiping	Narazah Mohd Yusoff et al. (2002), dbSNP, (OMIM 0029), ClinVar	G6PD_000005	rs72554664	1/20	-	DNA	PCRm	G6PD	Narazah Mohd Yusoff et al. (2002)	F	Malaysia	-	-	-	-	1	Nuur Athirah Binti Mohd Daud

Legend

How to query

Malaysian Node of the Human Variome Project Database

G6PD (glucose-6-phosphate dehydrogenase)