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Results for "TBC1D2"

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
TBC1D2     1-0826-004chr9:
100990859-100990859
CCAintronicDe novo--Yuen2017 G
TBC1D2     2-1522-003chr9:
101025993-101026004
ATACTCAGGGTTATintergenicDe novo--Yuen2017 G
TBC1D2     AU1764301chr9:
100974668-100974668
TGintronicDe novo--Yuen2017 G
TBC1D2     7-0012-003chr9:
101018423-101018423
CTupstreamDe novo--Yuen2017 G
TBC1D2     2-0307-003chr9:
101015202-101015204
CTGCintronicDe novo--Yuen2017 G
TBC1D2     iHART1237chr9:
100962534-100962534
CTsplicingPaternalsplicing23.08.476E-6Ruzzo2019 G
TBC1D2     1-0299-003chr9:
100964452-100964452
GAintronicDe novo--Yuen2017 G
TBC1D2     iHART1424chr9:
100963948-100963948
TCsplicingPaternalsplicing19.29-Ruzzo2019 G
TBC1D2     SSC06772chr9:
100962646-100962646
CTexonicDe novononsynonymous SNVNM_001267572
NM_001267571
c.G1088A
c.G2468A
p.R363H
p.R823H
27.52.31E-5Lim2017 E
TBC1D2     12967.p1chr9:
100962646-100962646
CTexonicDe novononsynonymous SNVNM_001267572
NM_001267571
c.G1088A
c.G2468A
p.R363H
p.R823H
27.52.31E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Source Variant Information

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Source:

Paper alias:

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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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