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Results for "CSAD"

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
CSAD     1-0382-004chr12:
53566324-53566324
GAexonicDe novononsynonymous SNVNM_001244705
NM_015989
c.C235T
c.C316T
p.R79C
p.R106C
15.795.0E-4Yuen2017 G
CSAD     PN400289chr12:
53566317-53566319
CTGCexonicUnknownframeshift deletionNM_001244705
NM_015989
c.240_241del
c.321_322del
p.Y80fs
p.Y107fs
-8.431E-6Leblond2019 E
CSAD     2-0273-003chr12:
53570592-53570592
CTintronicDe novo--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
CSAD     PN400203chr12:
53566317-53566319
CTGCexonicUnknownframeshift deletionNM_001244705
NM_015989
c.240_241del
c.321_322del
p.Y80fs
p.Y107fs
-8.431E-6Leblond2019 E
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     PN400166chr12:
53565710-53565710
CTexonicUnknownnonsynonymous SNVNM_001244705
NM_015989
c.G407A
c.G488A
p.R136Q
p.R163Q
34.08.0E-4Leblond2019 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     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-6Yuen2015 G
Yuen2017 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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