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Results for "SCN1A"

Variant Events: 35

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
SCN1A     F9212-1chr2:
166848282-166848282
GAexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.C5503T
c.C5419T
c.C5470T
c.C5503T
p.L1835F
p.L1807F
p.L1824F
p.L1835F
22.2-Satterstrom2020 E
SCN1A     12340.p1chr2:
166848006-166848006
TCexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.A5779G
c.A5695G
c.A5746G
c.A5779G
p.R1927G
p.R1899G
p.R1916G
p.R1927G
14.33-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
Satterstrom2020 E
Wilfert2021 G
SCN1A     12499.p1chr2:
166848071-166848071
GAexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.C5714T
c.C5630T
c.C5681T
c.C5714T
p.P1905L
p.P1877L
p.P1894L
p.P1905L
19.66-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
Satterstrom2020 E
Wilfert2021 G
SCN1A     08C75361chr2:
166900346-166900346
TCexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.A1876G
c.A1876G
c.A1876G
c.A1876G
p.S626G
p.S626G
p.S626G
p.S626G
12.23-Satterstrom2020 E
SCN1A     P098chr2:
166911226-166911226
GAexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.C524T
c.C524T
c.C524T
c.C524T
p.A175V
p.A175V
p.A175V
p.A175V
34.0-Long2019 ET
SCN1A     P074chr2:
166895930-166895930
TAintronicDe novo--Long2019 ET
SCN1A     Mahjani2021:89chr2:
166870273-166870273
ACexonicnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.T3686G
c.T3602G
c.T3653G
c.T3686G
p.L1229R
p.L1201R
p.L1218R
p.L1229R
22.7-Mahjani2021 E
SCN1A     217-14233-800chr2:
166870330-166870330
GAexonicUnknownnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.C3629T
c.C3545T
c.C3596T
c.C3629T
p.T1210M
p.T1182M
p.T1199M
p.T1210M
27.02.477E-5Stessman2017 T
SCN1A     SP0020764chr2:
166847988-166847988
GAexonicInheritedstopgainNM_001165963
NM_001165964
NM_006920
NM_001202435
c.C5797T
c.C5713T
c.C5764T
c.C5797T
p.R1933X
p.R1905X
p.R1922X
p.R1933X
42.0-Feliciano2019 E
SCN1A     P102chr2:
166915124-166915128
GGGAGGexonicDe novoframeshift deletionNM_001165963
NM_001165964
NM_006920
NM_001202435
c.335_338del
c.335_338del
c.335_338del
c.335_338del
p.T112fs
p.T112fs
p.T112fs
p.T112fs
--Long2019 ET
SCN1A     P018chr2:
166859023-166859023
AGexonicUnknownnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.T4243C
c.T4159C
c.T4210C
c.T4243C
p.F1415L
p.F1387L
p.F1404L
p.F1415L
18.83-Long2019 ET
SCN1A     SSC04635chr2:
166848006-166848006
TCexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.A5779G
c.A5695G
c.A5746G
c.A5779G
p.R1927G
p.R1899G
p.R1916G
p.R1927G
14.33-Lim2017 E
SCN1A     Li2017:19547chr2:
166848336-166848336
GAexonicUnknownnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.C5449T
c.C5365T
c.C5416T
c.C5449T
p.P1817S
p.P1789S
p.P1806S
p.P1817S
25.5-Li2017 T
SCN1A     P036chr2:
166911266-166911267
TGGTexonicDe novononframeshift substitutionNM_001165963
NM_001165964
NM_006920
NM_001202435
c.483_484AC
c.483_484AC
c.483_484AC
c.483_484AC
N/A
N/A
N/A
N/A
--Long2019 ET
SCN1A     P029chr2:
166904234-166904234
GAexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.C1073T
c.C1073T
c.C1073T
c.C1073T
p.P358L
p.P358L
p.P358L
p.P358L
28.5-Long2019 ET
SCN1A     04C27439chr2:
166901612-166901612
GAexonicUnknownnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.C1603T
c.C1603T
c.C1603T
c.C1603T
p.R535C
p.R535C
p.R535C
p.R535C
29.93.295E-5Stessman2017 T
SCN1A     Stessman2017:ASD-1015chr2:
166908478-166908478
CTexonicUnknownnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.G715A
c.G715A
c.G715A
c.G715A
p.A239T
p.A239T
p.A239T
p.A239T
35.0-Stessman2017 T
SCN1A     AU1209302chr2:
166901612-166901612
GAexonicUnknownnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.C1603T
c.C1603T
c.C1603T
c.C1603T
p.R535C
p.R535C
p.R535C
p.R535C
29.93.295E-5Stessman2017 T
SCN1A     2-1302-003chr2:
166848295-166848297
CTGCexonicDe novoframeshift deletionNM_001165963
NM_001165964
NM_006920
NM_001202435
c.5488_5489del
c.5404_5405del
c.5455_5456del
c.5488_5489del
p.Q1830fs
p.Q1802fs
p.Q1819fs
p.Q1830fs
--Yuen2017 G
SCN1A     AN16115chr2:
166856252-166856252
GAexonicUnknownnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.C4319T
c.C4235T
c.C4286T
c.C4319T
p.A1440V
p.A1412V
p.A1429V
p.A1440V
28.2-D’Gama2015 T
SCN1A     MT_109chr2:
166872170-166872170
TCexonicPaternalnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.A3497G
c.A3413G
c.A3464G
c.A3497G
p.Q1166R
p.Q1138R
p.Q1155R
p.Q1166R
21.6-Toma2013 E
SCN1A     188-03-100416chr2:
166915217-166915217
AGintronicDe novo--Satterstrom2020 E
SCN1A     Lee2020:38chr2:
166895923-166895923
TTCintronic--Lee2020 T
SCN1A     D’Gama2015:5278chr2:
166911147-166911147
CTsplicingMosaicsplicing27.6-D’Gama2015 T
SCN1A     1-0531-003chr2:
166904937-166904937
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SCN1A     Li2017:17452chr2:
166892679-166892679
AGexonicUnknownnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.T3308C
c.T3224C
c.T3275C
c.T3308C
p.M1103T
p.M1075T
p.M1092T
p.M1103T
16.22-Li2017 T
SCN1A     M19625chr2:
166850674-166850674
CTexonicMaternalnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.G4834A
c.G4750A
c.G4801A
c.G4834A
p.V1612I
p.V1584I
p.V1601I
p.V1612I
33.02.0E-4Guo2018 T
Wang2016 T
SCN1A     AU3849302chr2:
166930202-166930202
TCintronicDe novo--Yuen2017 G
SCN1A     Li2017:23104chr2:
166897908-166897908
AGexonicUnknownnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.T2248C
c.T2164C
c.T2215C
c.T2248C
p.C750R
p.C722R
p.C739R
p.C750R
19.37-Li2017 T
SCN1A     2-0006-004chr2:
166896720-166896720
GAintronicDe novo--Yuen2017 G
SCN1A     M32032chr2:
166866300-166866300
CTexonicPaternalnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.G3931A
c.G3847A
c.G3898A
c.G3931A
p.A1311T
p.A1283T
p.A1300T
p.A1311T
33.01.0E-4Guo2018 T
SCN1A     M30377chr2:
166850674-166850674
CTexonicMaternalnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.G4834A
c.G4750A
c.G4801A
c.G4834A
p.V1612I
p.V1584I
p.V1601I
p.V1612I
33.02.0E-4Guo2018 T
SCN1A     Yin2020:121chr2:
166892718-166892718
CGexonicnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.G3269C
c.G3185C
c.G3236C
c.G3269C
p.S1090T
p.S1062T
p.S1079T
p.S1090T
14.26-Yin2020 T
SCN1A     Yin2020:037chr2:
166850655-166850655
CAsplicingsplicing27.9-Yin2020 T
SCN1A     09C90753Achr2:
166848859-166848859
CGexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.G4926C
c.G4842C
c.G4893C
c.G4926C
p.R1642S
p.R1614S
p.R1631S
p.R1642S
17.46-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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