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Results for "ARHGAP31"

Variant Events: 13

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
ARHGAP31     2-1359-004chr3:
119135686-119135686
GAUTR3De novo--Yuen2017 G
ARHGAP31     1-0208-003chr3:
119086842-119086842
CGintronicDe novo--Yuen2017 G
ARHGAP31     iHART3168chr3:
119087351-119087351
TAexonicMaternalstopgainNM_020754c.T336Ap.Y112X33.0-Ruzzo2019 G
ARHGAP31     1-0323-003chr3:
119103938-119103938
AATintronicDe novo--Yuen2017 G
ARHGAP31     7-0254-004chr3:
119047750-119047750
CGintronicDe novo--Yuen2017 G
ARHGAP31     AU3761302chr3:
119023925-119023931
CAGAGAGCAGAGintronicDe novo--Yuen2017 G
ARHGAP31     AU1274304chr3:
119084157-119084157
AGintronicDe novo-8.568E-6Satterstrom2020 E
ARHGAP31     3-0025-000chr3:
119109669-119109669
CTexonicDe novosynonymous SNVNM_020754c.C720Tp.A240A--Tammimies2015 E
ARHGAP31     1-0751-003chr3:
119069496-119069496
TGintronicDe novo--Yuen2017 G
ARHGAP31     AU3727303chr3:
119089472-119089472
AGintronicDe novo--Yuen2017 G
ARHGAP31     A20chr3:
119049736-119049736
GAintronicDe novo--Wu2018 G
ARHGAP31     A2chr3:
119136197-119136197
GAUTR3De novo--Wu2018 G
ARHGAP31     A22chr3:
119029971-119029971
GAintronicDe novo--Wu2018 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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