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Results for "SCN8A"

Variant Events: 54

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
SCN8A     AC04-1008-04chr12:
52188224-52188224		AAGexonicDe novoframeshift insertionNM_001177984
NM_014191		c.4471_4472insG
c.4594_4595insG		p.I1491fs
p.I1532fs		--Fu2022 E
SCN8A     Hu2022:32chr12:
52080904-52080904		ATexonicMaternalnonsynonymous SNVNM_001177984
NM_014191		c.A515T
c.A515T		p.E172V
p.E172V		27.7-Hu2022 T
SCN8A     SMHC01002s000chr12:
52183087-52183087		AGexonicDe novononsynonymous SNVNM_001177984
NM_014191		c.A4181G
c.A4304G		p.E1394G
p.E1435G		24.7-Yuan2023 E
SCN8A     1937-23920chr12:
52099273-52099273		GAexonicnonsynonymous SNVNM_001177984
NM_014191		c.G1207A
c.G1207A		p.V403M
p.V403M		22.4-Callaghan2019 G
SCN8A     80001104504chr12:
52093426-52093426		TCexonicDe novononsynonymous SNVNM_001177984
NM_014191		c.T779C
c.T779C		p.F260S
p.F260S		23.9-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SCN8A     Mahjani2021:39chr12:
52200120-52200120		GAexonicnonsynonymous SNVNM_001177984
NM_014191		c.G4727A
c.G4850A		p.R1576Q
p.R1617Q		23.1-Mahjani2021 E
SCN8A     Li2017:23056chr12:
52100452-52100452		CTexonicUnknownnonsynonymous SNVNM_001177984
NM_014191		c.C1588T
c.C1588T		p.R530W
p.R530W		14.093.613E-5Li2017 T
SCN8A     Mahjani2021:45chr12:
52200798-52200798		AGexonicnonsynonymous SNVNM_001177984
NM_014191		c.A5405G
c.A5528G		p.H1802R
p.H1843R		16.93-Mahjani2021 E
SCN8A     7-0232-004chr12:
51997446-51997446		ACintronicDe novo--Trost2022 G
SCN8A     7-0151-003chr12:
52200551-52200551		TCexonicDe novononsynonymous SNVNM_001177984
NM_014191		c.T5158C
c.T5281C		p.Y1720H
p.Y1761H		17.3-Wang2020 T
Yuen2017 G
Zhou2022 GE
SCN8A     14135.p1chr12:
52180350-52180350		GAexonicMosaicnonsynonymous SNVNM_001177984
NM_014191		c.G3844A
c.G3967A		p.A1282T
p.A1323T		34.0-Dou2017 E
SCN8A     SF0095731.p1chr12:
52183175-52183176		TGTexonicframeshift deletionNM_001177984
NM_014191		c.4270delG
c.4393delG		p.D1424fs
p.D1465fs		--Wang2020 T
SCN8A     SF0086545.p2chr12:
52100452-52100452		CTexonicnonsynonymous SNVNM_001177984
NM_014191		c.C1588T
c.C1588T		p.R530W
p.R530W		14.093.613E-5Wang2020 T
SCN8A     AGRE_05C39269chr12:
52200866-52200866		CTexonicMaternalnonsynonymous SNVNM_001177984
NM_014191		c.C5473T
c.C5596T		p.R1825W
p.R1866W		14.3-Wang2020 T
SCN8A     ACGC_GX0486.p1chr12:
52200990-52200990		GAexonicMaternalnonsynonymous SNVNM_001177984
NM_014191		c.G5597A
c.G5720A		p.R1866Q
p.R1907Q		23.2-Wang2020 T
SCN8A     SP0037846chr12:
52099416-52099416		TGintronicDe novo--Trost2022 G
SCN8A     SP0137397chr12:
52099416-52099416		TGintronicDe novo--Trost2022 G
SCN8A     Chen2021:49chr12:
52093399-52093399		TCexonicDe novononsynonymous SNVNM_001177984
NM_014191		c.T752C
c.T752C		p.L251P
p.L251P		22.0-Chen2021 GET
SCN8A     3-0180-000chr12:
52097342-52097342		CTintronicDe novo--Trost2022 G
SCN8A     SP0010928chr12:
52099416-52099416		TGintronicDe novo--Trost2022 G
SCN8A     MSSNG00096-003chr12:
52066312-52066312		ATintronicDe novo--Trost2022 G
SCN8A     5-5164-003chr12:
52084128-52084128		TCintronicDe novo--Trost2022 G
SCN8A     SP0095731chr12:
52183175-52183176		TGTexonicDe novoframeshift deletionNM_001177984
NM_014191		c.4270delG
c.4393delG		p.D1424fs
p.D1465fs		--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SCN8A     1-1050-003chr12:
52006413-52006413		AGintronicDe novo--Trost2022 G
SCN8A     MSSNG00096-003chr12:
52062007-52062007		CTintronicDe novo--Trost2022 G
SCN8A     Li2017:23157chr12:
52139818-52139818		ACexonicUnknownnonsynonymous SNVNM_001177984
NM_014191		c.A2130C
c.A2130C		p.E710D
p.E710D		22.12.504E-5Li2017 T
SCN8A     MSSNG00423-004chr12:
52167892-52167892		CTintronicDe novo--Trost2022 G
SCN8A     1-1134-004chr12:
52171629-52171629		GAintronicDe novo--Trost2022 G
SCN8A     3-0749-000Achr12:
52132204-52132204		CGintronicDe novo--Trost2022 G
SCN8A     1028chr12:
52167680-52167680		GAintronicDe novo--Trost2022 G
SCN8A     SP0167016chr12:
52099416-52099416		TGintronicDe novo--Trost2022 G
SCN8A     Li2017:23182chr12:
52115614-52115614		CAexonicUnknownnonsynonymous SNVNM_001177984
NM_014191		c.C1920A
c.C1920A		p.N640K
p.N640K		18.64-Li2017 T
SCN8A     SP0236102chr12:
52099416-52099416		TGintronicDe novo--Trost2022 G
SCN8A     AU3702306chr12:
52066650-52066650		TCintronicDe novo--Yuen2017 G
SCN8A     2-0158-003chr12:
52032476-52032476		GCintronicDe novo--Trost2022 G
Yuen2017 G
SCN8A     Li2017:27chr12:
52180557-52180557		GAexonicUnknownnonsynonymous SNVNM_001177984
NM_014191		c.G4051A
c.G4174A		p.V1351M
p.V1392M		24.38.384E-6Li2017 T
SCN8A     AU3790301chr12:
52080441-52080441		CTintronicDe novo--Trost2022 G
Yuen2017 G
SCN8A     SP0086546chr12:
52100452-52100452		CTexonicDe novononsynonymous SNVNM_001177984
NM_014191		c.C1588T
c.C1588T		p.R530W
p.R530W		14.093.613E-5Fu2022 E
Trost2022 G
Zhou2022 GE
SCN8A     Wang2023:323chr12:
52081004-52081004		GAsplicingDe novosplicing26.2-Wang2023 E
SCN8A     SP0184564chr12:
52156449-52156449		TCexonicnonsynonymous SNVNM_001177984
NM_014191		c.T2533C
c.T2533C		p.S845P
p.S845P		21.8-Zhou2022 GE
SCN8A     SP0249494chr12:
52183165-52183165		GTexonicnonsynonymous SNVNM_001177984
NM_014191		c.G4259T
c.G4382T		p.G1420V
p.G1461V		25.2-Zhou2022 GE
SCN8A     2-1305-003chr12:
52069144-52069144		AGintronicDe novo--Yuen2016 G
Yuen2017 G
SCN8A     PN400283chr12:
52162910-52162910		CTexonicUnknownnonsynonymous SNVNM_001177984
NM_014191		c.C3163T
c.C3163T		p.R1055W
p.R1055W		19.028.564E-5Leblond2019 E
SCN8A     P0273chr12:
52093399-52093399		TCexonicDe novononsynonymous SNVNM_001177984
NM_014191		c.T752C
c.T752C		p.L251P
p.L251P		22.0-Xiong2019 ET
SCN8A     Krgovic2022:018960chr12:
52056657-52056658		CTCexonicUnknownframeshift deletionNM_001177984
NM_014191		c.57delT
c.57delT		p.P19fs
p.P19fs		--Krgovic2022 E
SCN8A     SanDiego_R2J2Dchr12:
52188167-52188167		GAexonicUnknownnonsynonymous SNVNM_001177984
NM_014191		c.G4414A
c.G4537A		p.G1472R
p.G1513R		26.1-Wang2020 T
SCN8A     207-08-109930chr12:
52200776-52200776		AGexonicDe novononsynonymous SNVNM_001177984
NM_014191		c.A5383G
c.A5506G		p.M1795V
p.M1836V		11.872.484E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SCN8A     ACGC_HEN0070.p1chr12:
52180432-52180432		CTexonicUnknownnonsynonymous SNVNM_001177984
NM_014191		c.C3926T
c.C4049T		p.A1309V
p.A1350V		33.0-Wang2020 T
SCN8A     TASC_217-14295-4160chr12:
52100339-52100339		GAexonicUnknownnonsynonymous SNVNM_001177984
NM_014191		c.G1475A
c.G1475A		p.R492H
p.R492H		28.01.264E-5Wang2020 T
SCN8A     Mahjani2021:137chr12:
52093426-52093426		TCexonicnonsynonymous SNVNM_001177984
NM_014191		c.T779C
c.T779C		p.F260S
p.F260S		23.9-Mahjani2021 E
SCN8A     Leuven2_60583093chr12:
52080880-52080880		CTexonicUnknownnonsynonymous SNVNM_001177984
NM_014191		c.C491T
c.C491T		p.T164M
p.T164M		26.32.493E-5Wang2020 T
SCN8A     Leuven2_80285992chr12:
52164324-52164324		CTexonicUnknownnonsynonymous SNVNM_001177984
NM_014191		c.C3502T
c.C3502T		p.R1168W
p.R1168W		15.463.592E-5Wang2020 T
SCN8A     Li2017:18914chr12:
52180557-52180557		GAexonicUnknownnonsynonymous SNVNM_001177984
NM_014191		c.G4051A
c.G4174A		p.V1351M
p.V1392M		24.38.384E-6Li2017 T
SCN8A     2-1261-003chr12:
51986315-51986315		AGintronicDe novo--Trost2022 G
Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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
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