or
or
Exact

Results for "CACNA1S"

Variant Events: 22

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     Viggiano2022:14.4chr1:
201044667-201044667		AGexonicPaternalnonsynonymous SNVNM_000069c.T1904Cp.M635T15.144.118E-5Viggiano2022 GT
CACNA1S     Viggiano2022:49.3chr1:
201031603-201031603		CGexonicMaternalnonsynonymous SNVNM_000069c.G2893Cp.E965Q15.528.238E-6Viggiano2022 GT
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
Zhou2022 GE
CACNA1S     1-0433-003chr1:
201069206-201069206		CTintronicDe novo--Trost2022 G
Yuen2017 G
CACNA1S     SSC05167chr1:
201047218-201047218		CTexonicDe novononsynonymous SNVNM_000069c.G1408Ap.V470M15.31-Fu2022 E
Lim2017 E
Trost2022 G
CACNA1S     SSC06435chr1:
201061169-201061169		CTexonicDe novononsynonymous SNVNM_000069c.G472Ap.G158S28.48.238E-6Fu2022 E
Trost2022 G
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
Zhou2022 GE
CACNA1S     Viggiano2022:46.3chr1:
201020224-201020224		TCexonicMaternalnonsynonymous SNVNM_000069c.A4001Gp.Y1334C15.941.647E-5Viggiano2022 GT
CACNA1S     Viggiano2022:40.4chr1:
201017745-201017747		GCAGexonicMaternalframeshift deletionNM_000069c.4404_4405delp.F1468fs--Viggiano2022 GT
CACNA1S     iHART3273chr1:
201054636-201054640		CTAGTCexonicMaternalframeshift deletionNM_000069c.1074_1077delp.Q358fs--Ruzzo2019 G
CACNA1S     iHART1048chr1:
201052451-201052451		CTsplicingMaternalsplicing14.28.237E-6Ruzzo2019 G
CACNA1S     9190768chr1:
201010738-201010738		GTintronicDe novo--Fu2022 E
CACNA1S     AU4056302chr1:
201054636-201054640		CTAGTCexonicMaternalframeshift deletionNM_000069c.1074_1077delp.Q358fs--Cirnigliaro2023 G
CACNA1S     mAGRE1048chr1:
201052451-201052451		CTsplicingMaternalsplicing14.28.237E-6Cirnigliaro2023 G
CACNA1S     NDAR_INVAF559YZC_wes1chr1:
201009483-201009483		GCexonicDe novononsynonymous SNVNM_000069c.C5246Gp.S1749C6.996-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CACNA1S     13999.p1chr1:
201063110-201063110		CTexonicMosaicnonsynonymous SNVNM_000069c.G298Ap.E100K32.0-Dou2017 E
CACNA1S     302-05-103645chr1:
201022412-201022412		GAintronicDe novo-4.13E-5Satterstrom2020 E
Trost2022 G
CACNA1S     111300chr1:
201046190-201046190		ATexonicnonsynonymous SNVNM_000069c.T1685Ap.L562Q23.9-Woodbury-Smith2022 E
CACNA1S     SP0065412chr1:
201047106-201047106		CTexonicnonsynonymous SNVNM_000069c.G1520Ap.G507D31.0-Zhou2022 GE
CACNA1S     SP0036774chr1:
201020199-201020199		CTexonicsynonymous SNVNM_000069c.G4026Ap.S1342S-8.237E-6Zhou2022 GE
CACNA1S     6584chr1:
201009260-201009260		TGintronicDe novo-8.334E-6Trost2022 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

VariCarta Copyright © 2016-2023 Contact Us