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Results for "G3BP2"

Variant Events: 11

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
G3BP2     AU056204chr4:
76610373-76610373
ATintergenicDe novo--Yuen2017 G
G3BP2     2-1230-003chr4:
76588617-76588617
TAintronicDe novo--Yuen2017 G
G3BP2     12523.p1chr4:
76580350-76580350
AGexonicMosaic, De novononsynonymous SNVNM_012297
NM_203504
NM_203505
c.T626C
c.T626C
c.T626C
p.L209P
p.L209P
p.L209P
10.36-Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
G3BP2     1-0010-005chr4:
76625603-76625603
CCTintergenicDe novo--Yuen2017 G
G3BP2     MAC961chr4:
76587173-76587173
GAexonicDe novononsynonymous SNVNM_012297
NM_203504
NM_203505
c.C37T
c.C37T
c.C37T
p.R13W
p.R13W
p.R13W
8.585-Satterstrom2020 E
G3BP2     AU2139301chr4:
76587685-76587685
CTintronicDe novo--Yuen2017 G
G3BP2     2-0272-003chr4:
76598616-76598616
CAUTR5De novo--Yuen2017 G
G3BP2     2-1261-003chr4:
76582916-76582916
TCsplicingDe novosplicing18.66-Yuen2017 G
G3BP2     1-0522-003chr4:
76592144-76592144
GAintronicDe novo--Yuen2016 G
Yuen2017 G
G3BP2     AU3913302chr4:
76613906-76613906
TCintergenicDe novo--Yuen2017 G
G3BP2     SSC04979chr4:
76580350-76580350
AGexonicDe novononsynonymous SNVNM_012297
NM_203504
NM_203505
c.T626C
c.T626C
c.T626C
p.L209P
p.L209P
p.L209P
10.36-Lim2017 E
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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