or
or
Exact

Results for "SCN8A"

Variant Events: 30

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     05C39269chr12:
52200866-52200866
CTexonicMaternalnonsynonymous SNVNM_001177984
NM_014191
c.C5473T
c.C5596T
p.R1825W
p.R1866W
14.3-Wang2020 T
Wang2020 T
SCN8A     217-14295-4160chr12:
52100339-52100339
GAexonicUnknownnonsynonymous SNVNM_001177984
NM_014191
c.G1475A
c.G1475A
p.R492H
p.R492H
28.01.264E-5Wang2020 T
Wang2020 T
SCN8A     SF0086545.p2chr12:
52100452-52100452
CTexonicDe novononsynonymous SNVNM_001177984
NM_014191
c.C1588T
c.C1588T
p.R530W
p.R530W
14.093.613E-5Wang2020 T
SCN8A     60583093chr12:
52080880-52080880
CTexonicUnknownnonsynonymous SNVNM_001177984
NM_014191
c.C491T
c.C491T
p.T164M
p.T164M
26.32.493E-5Wang2020 T
Wang2020 T
SCN8A     GX0486.p1chr12:
52200990-52200990
GAexonicMaternalnonsynonymous SNVNM_001177984
NM_014191
c.G5597A
c.G5720A
p.R1866Q
p.R1907Q
23.2-Wang2020 T
Wang2020 T
SCN8A     Li2017:27chr12:
52180557-52180557
GAexonicUnknownnonsynonymous SNVNM_001177984
NM_014191
c.G4051A
c.G4174A
p.V1351M
p.V1392M
24.38.384E-6Li2017 T
SCN8A     80285992chr12:
52164324-52164324
CTexonicUnknownnonsynonymous SNVNM_001177984
NM_014191
c.C3502T
c.C3502T
p.R1168W
p.R1168W
15.463.592E-5Wang2020 T
Wang2020 T
SCN8A     SF0095731.p1chr12:
52183175-52183176
TGTexonicDe novoframeshift deletionNM_001177984
NM_014191
c.4270delG
c.4393delG
p.D1424fs
p.D1465fs
--Wang2020 T
SCN8A     AU3790301chr12:
52080441-52080441
CTintronicDe novo--Yuen2017 G
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-Satterstrom2020 E
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     2-1305-003chr12:
52069144-52069144
AGintronicDe novo--Yuen2016 G
Yuen2017 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
SCN8A     14135.p1chr12:
52180350-52180350
GAexonicMosaicnonsynonymous SNVNM_001177984
NM_014191
c.G3844A
c.G3967A
p.A1282T
p.A1323T
34.0-Dou2017 E
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     Chen2021:49chr12:
52093399-52093399
TCexonicDe novononsynonymous SNVNM_001177984
NM_014191
c.T752C
c.T752C
p.L251P
p.L251P
22.0-Chen2021 GET
SCN8A     207-08-109930chr12:
52200776-52200776
AGexonicDe novononsynonymous SNVNM_001177984
NM_014191
c.A5383G
c.A5506G
p.M1795V
p.M1836V
11.872.484E-5Satterstrom2020 E
SCN8A     Li2017:23157chr12:
52139818-52139818
ACexonicUnknownnonsynonymous SNVNM_001177984
NM_014191
c.A2130C
c.A2130C
p.E710D
p.E710D
22.12.504E-5Li2017 T
SCN8A     Li2017:23182chr12:
52115614-52115614
CAexonicUnknownnonsynonymous SNVNM_001177984
NM_014191
c.C1920A
c.C1920A
p.N640K
p.N640K
18.64-Li2017 T
SCN8A     R2J2Dchr12:
52188167-52188167
GAexonicUnknownnonsynonymous SNVNM_001177984
NM_014191
c.G4414A
c.G4537A
p.G1472R
p.G1513R
26.1-Wang2020 T
Wang2020 T
SCN8A     Mahjani2021:137chr12:
52093426-52093426
TCexonicnonsynonymous SNVNM_001177984
NM_014191
c.T779C
c.T779C
p.F260S
p.F260S
23.9-Mahjani2021 E
SCN8A     AU3702306chr12:
52066650-52066650
TCintronicDe novo--Yuen2017 G
SCN8A     HEN0070.p1chr12:
52180432-52180432
CTexonicUnknownnonsynonymous SNVNM_001177984
NM_014191
c.C3926T
c.C4049T
p.A1309V
p.A1350V
33.0-Wang2020 T
Wang2020 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     2-0158-003chr12:
52032476-52032476
GCintronicDe novo--Yuen2017 G
SCN8A     2-1261-003chr12:
51986315-51986315
AGintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More