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Results for "CACNA1S"

Variant Events: 10

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
CACNA1S     NDAR_INVAF559YZC_wes1chr1:
201009483-201009483
GCexonicDe novononsynonymous SNVNM_000069c.C5246Gp.S1749C6.996-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CACNA1S     12916.p1chr1:
201061169-201061169
CTexonicDe novononsynonymous SNVNM_000069c.G472Ap.G158S28.48.238E-6Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
CACNA1S     1-0433-003chr1:
201069206-201069206
CTintronicDe novo--Yuen2017 G
CACNA1S     SSC05167chr1:
201047218-201047218
CTexonicDe novononsynonymous SNVNM_000069c.G1408Ap.V470M15.31-Lim2017 E
CACNA1S     13999.p1chr1:
201063110-201063110
CTexonicMosaicnonsynonymous SNVNM_000069c.G298Ap.E100K32.0-Dou2017 E
CACNA1S     14292.p1chr1:
201009260-201009260
TGintronicDe novo-8.334E-6Satterstrom2020 E
CACNA1S     12472.p1chr1:
201047218-201047218
CTexonicDe novononsynonymous SNVNM_000069c.G1408Ap.V470M15.31-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
CACNA1S     302-05-103645chr1:
201022412-201022412
GAintronicDe novo-4.13E-5Satterstrom2020 E
CACNA1S     iHART3273chr1:
201054636-201054640
CTAGTCexonicMaternalframeshift deletionNM_000069c.1074_1077delp.Q358fs--Ruzzo2019 G
CACNA1S     iHART1048chr1:
201052451-201052451
CTsplicingMaternalsplicing14.28.237E-6Ruzzo2019 G
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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