Malaysian Node of the Human Variome Project Database
SCN1A (sodium voltage-gated channel alpha subunit 1)
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View all diseases associated with gene SCN1A
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Full data view for gene SCN1A
The variants shown are described using the NM_001165963.2 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.
56 entries on 1 page. Showing entries 1 - 56.
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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
+/.
1
c.247T>G
-
r.(?)
p.(Tyr83Asp)
-
-
Unknown
g.166073375A>C
-
-
SCN1A_000014
rs1584294942
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.265-699A>G
-
r.(=)
p.(=)
-
-
Unknown
g.19253A>G
-
Larry Baum et al.(2014)
SCN1A_000009
rs10188577
-
-
DNA
?
Epilepsy
Larry Baum et al.(2014)
-
Kuala Lumpur
-
-
-
-
1
Nur Aisyah Athirah
?/.
-
c.280A>C
-
r.(?)
p.(Asn94His)
-
ClinVar
Unknown
g.166058673T>G
-
dbSNP
,
ClinVar
SCN1A_000029
rs755835349
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.424T>C
-
r.(?)
p.(Cys142Arg)
-
-
Unknown
g.166056460A>G
-
-
SCN1A_000043
rs780232692
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.506C>G
-
r.(?)
p.(Ser169*)
-
-
Unknown
g.166054734G>C
-
dbSNP
SCN1A_000035
rs104893734
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.602+1G>A
-
r.spl?
p.?
-
-
Unknown
g.166054637C>T
-
ClinVar
SCN1A_000046
-
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.603-91G>A
-
r.(=)
p.(=)
-
ClinVar
Unknown
g.166053034C>T
-
Batoul Sadat Haerian et al. (2015)
,
dbSNP
,
ClinVar
SCN1A_000008
rs3812718
66/151
-
DNA
SEQ, SBE
Epilepsy
Batoul Sadat Haerian et al. (2015)
-
Malaysia
Indian
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.603-91G>A
-
r.(=)
p.(=)
-
drug response
Unknown
g.166909544C>T
-
Batoul Sadat Haerian et al. (2015)
,
ClinVar
SCN1A_000008
rs3812718
-
-
DNA
SBE
Epilepsy
Batoul Sadat Haerian et al. (2015)
-
Malaysia
Chinese
-
-
-
1
Nur Aisyah Athirah
+/.
-
c.603-91G>A
-
r.(=)
p.(=)
-
drug response
Unknown
g.166909544C>T
-
Batoul Sadat Haerian et al. (2015)
SCN1A_000008
rs3812718
-
-
DNA
SBE
Epilepsy
Batoul Sadat Haerian et al. (2015)
-
Malaysia
Malay
-
-
-
1
Nur Aisyah Athirah
+/.
-
c.603-91G>A
-
r.(=)
p.(=)
-
ClinVar
Both (homozygous)
g.166053034C>T
-
Batoul Sadat Haerian et al. (2015)
,
dbSNP
,
ClinVar
SCN1A_000008
rs3812718
37/243
-
DNA
SEQ, SBE
Epilepsy
Batoul Sadat Haerian et al. (2015)
-
Malaysia
Malay
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.603-91G>A
-
r.(=)
p.(=)
-
ClinVar
Unknown
g.166053034C>T
-
Batoul Sadat Haerian et al. (2015)
,
dbSNP
,
ClinVar
SCN1A_000008
rs3812718
114/243
-
DNA
SEQ, SBE
Epilepsy
Batoul Sadat Haerian et al. (2015)
-
Malaysia
Malay
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.603-91G>A
-
r.(=)
p.(=)
-
ClinVar
Both (homozygous)
g.166053034C>T
-
Batoul Sadat Haerian et al. (2015)
,
dbSNP
,
ClinVar
SCN1A_000008
rs3812718
19/151
-
DNA
SEQ, SBE
Epilepsy
Batoul Sadat Haerian et al. (2015)
-
Malaysia
Indian
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.603-91G>A
-
r.(=)
p.(=)
-
ClinVar
Both (homozygous)
g.166053034C>T
-
Batoul Sadat Haerian et al. (2015)
,
dbSNP
,
ClinVar
SCN1A_000008
rs3812718
39/282
-
DNA
SEQ, SBE
Epilepsy
Batoul Sadat Haerian et al. (2015)
-
Malaysia
Chinese
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.603-91G>A
-
r.(=)
p.(=)
-
ClinVar
Unknown
g.166053034C>T
-
Batoul Sadat Haerian et al. (2015)
,
dbSNP
,
ClinVar
SCN1A_000008
rs3812718
130/282
-
DNA
SEQ, SBE
Epilepsy
Batoul Sadat Haerian et al. (2015)
-
Malaysia
Chinese
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.603-91G>A
-
r.(=)
p.(=)
-
drug response
Unknown
g.166909544C>T
-
Batoul Sadat Haerian et al. (2015)
SCN1A_000008
rs3812718
-
-
DNA
SBE
Epilepsy
Batoul Sadat Haerian et al. (2015)
-
Malaysia
Indian
-
-
-
1
Nur Aisyah Athirah
+/.
-
c.603-91G>A
-
r.(=)
p.(=)
-
-
Unknown
g.25606G>A
IVS5N+5G>A
Larry Baum et al.(2014)
SCN1A_000008
rs3812718
-
-
DNA
?
Epilepsy
Larry Baum et al.(2014)
-
Kuala Lumpur
-
-
-
-
1
Nur Aisyah Athirah
+/.
-
c.654_655delCA
-
r.(?)
p.(Phe218Leufs*58)
-
-
Unknown
g.166052891_166052892del
-
-
SCN1A_000039
rs1591828796
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.838T>C
-
r.(?)
p.(Trp280Arg)
-
ClinVar
Unknown
g.166051845A>G
-
dbSNP
,
ClinVar
SCN1A_000027
rs121917938
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.942G>A
-
r.(?)
p.(Trp314*)
-
-
Unknown
g.166051741C>T
-
-
SCN1A_000033
rs763363403
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.1034G>A
-
r.(?)
p.(Cys345Tyr)
-
ClinVar
Unknown
g.166047763C>T
-
dbSNP
,
ClinVar
SCN1A_000041
rs1057518243
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
-/.
8
c.1152G>A
-
r.(?)
p.(Trp384*)
-
ClinVar
Unknown
g.166047645C>T
-
dbSNP
,
ClinVar
SCN1A_000022
rs6434811
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
9
c.1177C>T
-
r.(?)
p.(Arg393Cys)
-
ClinVar
Unknown
g.166046970G>A
-
dbSNP
,
ClinVar
SCN1A_000025
rs121917929
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
9
c.1259C>T
-
r.(?)
p.(Ala420Val)
-
ClinVar
Unknown
g.166046888G>A
A420V
Emmilia Husni Tan et al. (2012)
,
dbSNP
,
ClinVar
SCN1A_000001
rs794726826
1/9
-
DNA
DHPLC, PCR
GEFS+
Emmilia Husni Tan et al. (2012)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.1377+1G>A
-
r.spl?
p.?
-
-
Unknown
g.166046769C>T
-
-
SCN1A_000031
rs863223406
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
11
c.1702C>T
-
r.(?)
p.(Arg568*)
-
ClinVar
Unknown
g.166044010G>A
-
dbSNP
,
ClinVar
SCN1A_000020
rs886039430
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.1813_1814del
-
r.(?)
p.(Asp606Phefs*21)
-
-
Unknown
g.166043898_166043899del
c.1813_1814delAG
-
SCN1A_000038
rs1555163017
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.2068_2069insT
-
r.(?)
p.(Arg690Metfs*39)
-
-
Unknown
g.166042399_166042400insA
-
-
SCN1A_000036
-
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
12
c.2134C>T
-
r.(?)
p.(Arg712*)
-
ClinVar
Unknown
g.166042334G>A
-
dbSNP
,
ClinVar
SCN1A_000021
rs794726730
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
12
c.2173G>A
-
r.(?)
p.(Glu725Lys)
-
-
Unknown
g.166042295C>T
E715K
Emmilia Husni Tan et al. (2012)
SCN1A_000002
rs192221816
1/9
-
DNA
DHPLC, PCR
GEFS+
Emmilia Husni Tan et al. (2012)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.2415+2T>A
-
r.spl?
p.?
-
-
Unknown
g.166041229A>T
-
-
SCN1A_000032
-
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
14
c.2439A>T
-
r.(=)
p.(=)
-
-
Unknown
g.166039573T>A
P814P,T2439A
Emmilia Husni Tan et al. (2012)
SCN1A_000003
rs34835657
1/9
-
DNA
DHPLC, PCR
GEFS+
Emmilia Husni Tan et al. (2012)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.2589+3A>T
-
r.spl?
p.?
-
ClinVar
Unknown
g.166039420T>A
-
dbSNP
,
ClinVar
SCN1A_000030
rs794726775
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
15
c.2643G>C
-
r.(?)
p.(Lys881Asn)
-
-
Unknown
g.166038079C>G
K871N,G2610C
Emmilia Husni Tan et al. (2012)
SCN1A_000004
rs776985592
1/9
-
DNA
DHPLC, PCR
GEFS+
Emmilia Husni Tan et al. (2012)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.2836C>T
-
r.(?)
p.(Arg946Cys)
-
-
Unknown
g.166037886G>A
-
ClinVar
SCN1A_000028
-
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.2837G>A
-
r.(?)
p.(Arg946His)
-
-
Unknown
g.166037885C>T
-
ClinVar
SCN1A_000044
-
2/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.3079A>T
-
r.(?)
p.(Lys1027*)
-
-
Unknown
g.166036398T>A
-
-
SCN1A_000037
-
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
?/.
16
c.3099delT
-
r.(?)
p.(Phe1033Leufs*13)
-
ClinVar
Unknown
g.166036380del
-
dbSNP
,
ClinVar
SCN1A_000018
rs1599651707
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.3199G>C
-
r.(?)
p.(Ala1067Pro)
-
Benign
Unknown
g.42362G>C
-
Larry Baum et al.(2014)
SCN1A_000010
rs2298771
-
-
DNA
?
Epilepsy
Larry Baum et al.(2014)
-
Kuala Lumpur
-
-
-
-
1
Nur Aisyah Athirah
+/.
-
c.3829C>T
-
r.(?)
p.(Gln1277*)
-
-
Unknown
g.166012159G>A
-
ClinVar
SCN1A_000040
-
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
20
c.3943_3949del
-
r.(?)
p.(Leu1315Hisfs*2)
-
-
Unknown
g.166009772_166009778del
3943_3949delCTCAGGA
-
SCN1A_000019
-
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.4072T>C
-
r.(?)
p.(Trp1358Arg)
-
-
Unknown
g.166002684A>G
-
-
SCN1A_000045
rs377054979
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
22
c.4324G>C
-
r.(?)
p.(Val1442Leu)
-
-
Unknown
g.165999737C>G
V1432L,G4291C
Emmilia Husni Tan et al. (2012)
SCN1A_000005
-
1/9
-
DNA
DHPLC, PCR
GEFS+
Emmilia Husni Tan et al. (2012)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
24
c.4547C>A
-
r.(?)
p.(Ser1516*)
-
ClinVar
Unknown
g.165996047G>T
-
dbSNP
,
ClinVar
SCN1A_000015
rs139300715
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
25
c.4649T>G
-
r.(?)
p.(Leu1550Arg)
-
-
Unknown
g.165994349A>C
-
-
SCN1A_000026
rs200655479
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.4786_4788delCGC
-
r.(?)
p.(Arg1596del)
-
-
Unknown
g.165994210_165994212del
-
-
SCN1A_000047
-
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
25
c.4790A>G
-
r.(?)
p.(His1597Arg)
-
-
Unknown
g.165994208T>C
H1583R,A4748G
Emmilia Husni Tan et al. (2012)
SCN1A_000006
-
1/9
-
DNA
DHPLC, PCR
GEFS+
Emmilia Husni Tan et al. (2012)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
26
c.4906C>T
-
r.(?)
p.(Arg1636*)
-
ClinVar
Unknown
g.165992369G>A
-
dbSNP
,
ClinVar
SCN1A_000013
rs199727342
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
26
c.5129T>G
-
r.(?)
p.(Phe1710Cys)
-
ClinVar
Unknown
g.165992146A>C
-
dbSNP
,
ClinVar
SCN1A_000024
rs1315439478
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
26
c.5155C>T
-
r.(?)
p.(Gln1719*)
-
-
Unknown
g.165992120G>A
-
-
SCN1A_000023
rs782367966
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
26
c.5197A>G
-
r.(?)
p.(Ile1733Val)
-
-
Unknown
g.5694A>G
-
Emmilia H Tan et al.(2012)
SCN1A_000011
rs138287354
-
-
?
?
GEFS+
Emmilia H Tan et al.(2012)
M
Malaysia
Malay
-
-
-
1
Nur Aisyah Athirah
+/.
26
c.5230A>G
-
r.(?)
p.(Asn1744Asp)
-
-
Unknown
g.165992045T>C
N1733D,A5197G
Emmilia Husni Tan et al. (2012)
SCN1A_000007
rs376234802
1/9
-
DNA
DHPLC, PCR
GEFS+
Emmilia Husni Tan et al. (2012)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.5345T>C
-
r.(?)
p.(Ile1782Thr)
-
-
Unknown
g.165991930A>G
-
-
SCN1A_000042
rs80356905
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
26
c.5656C>T
-
r.(?)
p.(Arg1886*)
-
ClinVar
Unknown
g.165991619G>A
-
dbSNP
,
ClinVar
SCN1A_000017
rs779614747
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
-
c.5734C>T
-
r.(?)
p.(Arg1912*)
-
ClinVar
Unknown
g.165991541G>A
-
dbSNP
,
ClinVar
SCN1A_000034
rs77216276
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
+/.
26
c.5753C>T
-
r.(?)
p.(Ser1918Phe)
-
Likely Pathogenic
Unknown
g.165991522G>A
-
Chung-Kin Chan et al.(2020)
SCN1A_000012
rs796053048
-
-
DNA
PCR, SEQ, TaqMan
GGE
Chung-Kin Chan et al.(2020)
-
Malaysia
Chinese
-
-
-
1
Nur Aisyah Athirah
+/.
26
c.5788delC
-
r.(?)
p.(Leu1930Phefs*2)
-
-
Unknown
g.165991488del
-
-
SCN1A_000016
-
1/38
-
DNA
MLPA, PCR, SEQ
Epilepsy
Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)
-
Malaysia
-
-
-
-
1
Nuur Athirah Binti Mohd Daud
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