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Results for "GSG1"

Variant Events: 6

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
GSG1     1-0708-003chr12:
13298773-13298773
CGintergenicDe novo--Yuen2017 G
GSG1     2-0012-004chr12:
13237922-13237922
GAexonicDe novosynonymous SNVNM_001206845
NM_001206842
NM_001206843
NM_153823
NM_001080555
c.C741T
c.C933T
c.C810T
c.C894T
c.C1002T
p.S247S
p.S311S
p.S270S
p.S298S
p.S334S
-1.0E-4Yuen2015 G
Yuen2017 G
GSG1     1-0261-003chr12:
13243888-13243888
CCCTCTintronicDe novo--Yuen2017 G
GSG1     SSC11199chr12:
13238002-13238002
TCexonicDe novononsynonymous SNVNM_001206845
NM_001206842
NM_001206843
NM_153823
NM_001080555
c.A661G
c.A853G
c.A730G
c.A814G
c.A922G
p.T221A
p.T285A
p.T244A
p.T272A
p.T308A
1.264-Lim2017 E
GSG1     14241.p1chr12:
13238002-13238002
TCexonicDe novononsynonymous SNVNM_001206845
NM_001206842
NM_001206843
NM_153823
NM_001080555
c.A661G
c.A853G
c.A730G
c.A814G
c.A922G
p.T221A
p.T285A
p.T244A
p.T272A
p.T308A
1.264-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
GSG1     AU027506chr12:
13315367-13315367
AGintergenicDe novo--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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