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Results for "SCN4A"

Variant Events: 9

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
SCN4A     NDAR_INVFF921HTH_wes1chr17:
62018938-62018938
GAexonicDe novosynonymous SNVNM_000334c.C4704Tp.C1568C-9.953E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SCN4A     13646.p1chr17:
62049125-62049125
GAexonicDe novononsynonymous SNVNM_000334c.C568Tp.R190W19.761.273E-5Ji2016 E
Krumm2015 E
Satterstrom2020 E
SCN4A     10C111561chr17:
62034528-62034528
ATexonicDe novononsynonymous SNVNM_000334c.T2370Ap.N790K16.63-Lim2017 E
SCN4A     09C83621chr17:
62025404-62025404
AGexonicDe novononsynonymous SNVNM_000334c.T3164Cp.I1055T21.1-Satterstrom2020 E
SCN4A     Viggiano2022:22.3chr17:
62022812-62022812
CTexonicPaternalnonsynonymous SNVNM_000334c.G3628Ap.E1210K13.432.483E-5Viggiano2022 GT
SCN4A     14643.p1chr17:
62029050-62029050
CTexonicDe novononsynonymous SNVNM_000334c.G2587Ap.G863R0.561.581E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SCN4A     Lim2017:37086chr17:
62029050-62029050
CTexonicDe novononsynonymous SNVNM_000334c.G2587Ap.G863R0.561.581E-5Lim2017 E
SCN4A     AU4150301chr17:
62060537-62060537
GTintergenicDe novo--Yuen2017 G
SCN4A     Viggiano2022:22.4chr17:
62022812-62022812
CTexonicPaternalnonsynonymous SNVNM_000334c.G3628Ap.E1210K13.432.483E-5Viggiano2022 GT
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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