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Results for "CSAD"

Variant Events: 19

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
CSAD     1-0382-004chr12:
53566324-53566324		GAexonicDe novononsynonymous SNVNM_001244705
NM_015989		c.C235T
c.C316T		p.R79C
p.R106C		15.795.0E-4Trost2022 G
Yuen2017 G
CSAD     13535.p1chr12:
53553919-53553919		GAexonicDe novononsynonymous SNVNM_001244706
NM_001244705
NM_015989		c.C452T
c.C1151T
c.C1232T		p.A151V
p.A384V
p.A411V		11.5-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
CSAD     SP0059943chr12:
53564239-53564239		GAexonicDe novosynonymous SNVNM_001244705
NM_015989		c.C615T
c.C696T		p.T205T
p.T232T		12.911.648E-5Fu2022 E
Trost2022 G
Zhou2022 GE
CSAD     SP0131047chr12:
53554909-53554909		ACsplicingDe novosplicing18.99-Fu2022 E
CSAD     SP0018317chr12:
53574265-53574265		GAintronicDe novo--Fu2022 E
Trost2022 G
Trost2022 G
CSAD     SP0069459chr12:
53553745-53553745		CTintronicDe novo--Fu2022 E
Trost2022 G
CSAD     PN400166chr12:
53565710-53565710		CTexonicUnknownnonsynonymous SNVNM_001244705
NM_015989		c.G407A
c.G488A		p.R136Q
p.R163Q		34.08.0E-4Leblond2019 E
CSAD     2-0003-004chr12:
53552426-53552426		TCexonicDe novononsynonymous SNVNM_001244706
NM_001244705
NM_015989		c.A652G
c.A1351G
c.A1432G		p.M218V
p.M451V
p.M478V		15.278.314E-6Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE
CSAD     PN400289chr12:
53566317-53566319		CTGCexonicUnknownframeshift deletionNM_001244705
NM_015989		c.240_241del
c.321_322del		p.Y80fs
p.Y107fs		-8.431E-6Leblond2019 E
CSAD     SP0218756chr12:
53553732-53553732		GAintronicDe novo--Trost2022 G
CSAD     2-0273-003chr12:
53570592-53570592		CTintronicDe novo--Trost2022 G
Yuen2017 G
CSAD     SSC07672chr12:
53553919-53553919		GAexonicDe novononsynonymous SNVNM_001244706
NM_001244705
NM_015989		c.C452T
c.C1151T
c.C1232T		p.A151V
p.A384V
p.A411V		11.5-Fu2022 E
Trost2022 G
CSAD     mAGRE4370chr12:
53566222-53566222		TCsplicingMaternalsplicing19.33.0E-4Cirnigliaro2023 G
CSAD     PN400203chr12:
53566317-53566319		CTGCexonicUnknownframeshift deletionNM_001244705
NM_015989		c.240_241del
c.321_322del		p.Y80fs
p.Y107fs		-8.431E-6Leblond2019 E
CSAD     mAGRE4184chr12:
53566222-53566222		TCsplicingPaternalsplicing19.33.0E-4Cirnigliaro2023 G
CSAD     PN400532chr12:
53566317-53566319		CTGCexonicUnknownframeshift deletionNM_001244705
NM_015989		c.240_241del
c.321_322del		p.Y80fs
p.Y107fs		-8.431E-6Leblond2019 E
CSAD     PN400515chr12:
53566317-53566319		CTGCexonicUnknownframeshift deletionNM_001244705
NM_015989		c.240_241del
c.321_322del		p.Y80fs
p.Y107fs		-8.431E-6Leblond2019 E
CSAD     PN400514chr12:
53566317-53566319		CTGCexonicInherited, Unknownframeshift deletionNM_001244705
NM_015989		c.240_241del
c.321_322del		p.Y80fs
p.Y107fs		-8.431E-6Leblond2019 E
Leblond2019 E
CSAD     MSSNG00049-003chr12:
53572554-53572554		GCintronicDe novo--Trost2022 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
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