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Results for "SCN1A"

Variant Events: 55

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     SP0176494chr2:
166905424-166905424		GCexonicnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.C1000G
c.C1000G
c.C1000G
c.C1000G		p.L334V
p.L334V
p.L334V
p.L334V		17.022.0E-4Zhou2022 GE
SCN1A     SP0149715chr2:
166903454-166903457		TATCTexonicDe novononframeshift deletionNM_001165963
NM_001165964
NM_006920
NM_001202435		c.1200_1202del
c.1200_1202del
c.1200_1202del
c.1200_1202del		p.400_401del
p.400_401del
p.400_401del
p.400_401del		--Trost2022 G
Zhou2022 GE
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     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-Fu2022 E
Lim2017 E
Trost2022 G
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     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     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		--Trost2022 G
Yuen2017 G
Zhou2022 GE
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     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     AU3849302chr2:
166930202-166930202		TCintronicDe novo--Trost2022 G
Yuen2017 G
SCN1A     SP0065420chr2:
166848245-166848249		AGTTTAexonicDe novoframeshift deletionNM_001165963
NM_001165964
NM_006920
NM_001202435		c.5536_5539del
c.5452_5455del
c.5503_5506del
c.5536_5539del		p.K1846fs
p.K1818fs
p.K1835fs
p.K1846fs		--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SCN1A     Chen2021:46chr2:
166848637-166848637		GTexonicUnknownstopgainNM_001165963
NM_001165964
NM_006920
NM_001202435		c.C5148A
c.C5064A
c.C5115A
c.C5148A		p.C1716X
p.C1688X
p.C1705X
p.C1716X		43.0-Chen2021 GET
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     Chen2021:45chr2:
166892584-166892586		CACCexonicDe novoframeshift deletionNM_001165963
NM_001165964
NM_006920
NM_001202435		c.3401_3402del
c.3317_3318del
c.3368_3369del
c.3401_3402del		p.S1134fs
p.S1106fs
p.S1123fs
p.S1134fs		--Chen2021 GET
SCN1A     2-0006-004chr2:
166896720-166896720		GAintronicDe novo--Trost2022 G
Yuen2017 G
SCN1A     SP0050353chr2:
166848438-166848438		CTexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.G5347A
c.G5263A
c.G5314A
c.G5347A		p.A1783T
p.A1755T
p.A1772T
p.A1783T		28.6-Fu2022 E
Zhou2022 GE
SCN1A     SMHC00820s000chr2:
166897974-166897974		CTexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.G2182A
c.G2098A
c.G2149A
c.G2182A		p.E728K
p.E700K
p.E717K
p.E728K		33.0-Yuan2023 E
SCN1A     SP0048058chr2:
166911147-166911147		CTsplicingDe novosplicing27.6-Fu2022 E
Trost2022 G
Zhou2022 GE
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     G001260chr2:
166911147-166911147		CTsplicingsplicing27.6-Sanchis-Juan2023 G
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     G006382chr2:
166848815-166848815		CTexonicnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.G4970A
c.G4886A
c.G4937A
c.G4970A		p.R1657H
p.R1629H
p.R1646H
p.R1657H		29.6-Sanchis-Juan2023 G
SCN1A     Yin2020:037chr2:
166850655-166850655		CAsplicingsplicing27.9-Yin2020 T
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-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SCN1A     6371007055178-Cchr2:
166894583-166894583		GAexonicDe novosynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.C2649T
c.C2565T
c.C2616T
c.C2649T		p.I883I
p.I855I
p.I872I
p.I883I		-3.303E-5Fu2022 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
Zhou2022 GE
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
Trost2022 G
Wilfert2021 G
Zhou2022 GE
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-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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     Alvarez-Mora2016:ASD-25chr2:
166900411-166900411		CTexonicMaternalnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.G1811A
c.G1811A
c.G1811A
c.G1811A		p.R604H
p.R604H
p.R604H
p.R604H		13.670.0015Alvarez-Mora2016 T
SCN1A     SP0036982chr2:
166912957-166912957		GTexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.C437A
c.C437A
c.C437A
c.C437A		p.T146K
p.T146K
p.T146K
p.T146K		27.9-Trost2022 G
Zhou2022 GE
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     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     AU2631301chr2:
166900346-166900346		TCexonicnonsynonymous 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-Zhou2022 GE
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     188-03-100416chr2:
166915217-166915217		AGintronicDe novo--Satterstrom2020 E
Trost2022 G
SCN1A     133341chr2:
166856252-166856252		GAexonicnonsynonymous 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-Woodbury-Smith2022 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--Trost2022 G
Yuen2016 G
Yuen2017 G
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     P0378chr2:
166892584-166892586		CACCexonicDe novoframeshift deletionNM_001165963
NM_001165964
NM_006920
NM_001202435		c.3401_3402del
c.3317_3318del
c.3368_3369del
c.3401_3402del		p.S1134fs
p.S1106fs
p.S1123fs
p.S1134fs		--Xiong2019 ET
SCN1A     P0263chr2:
166848637-166848637		GTexonicDe novostopgainNM_001165963
NM_001165964
NM_006920
NM_001202435		c.C5148A
c.C5064A
c.C5115A
c.C5148A		p.C1716X
p.C1688X
p.C1705X
p.C1716X		43.0-Xiong2019 ET
SCN1A     TRE_459chr2:
166903423-166903423		AGexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.T1234C
c.T1234C
c.T1234C
c.T1234C		p.F412L
p.F412L
p.F412L
p.F412L		22.6-Fu2022 E
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     10020364666198229-Cchr2:
166904133-166904133		TGintronicDe novo--Fu2022 E
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-Fu2022 E
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
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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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