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Results for "ARHGEF4"

Variant Events: 8

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
ARHGEF4     IGM9681chr2:
131769382-131769382
GTintronicDe novo8.73-Satterstrom2020 E
ARHGEF4     AU3779302chr2:
131767652-131767652
TCintronicDe novo--Yuen2017 G
ARHGEF4     3D628chr2:
131785553-131785553
GAexonicDe novononsynonymous SNVNM_032995
NM_015320
c.G463A
c.G463A
p.A155T
p.A155T
12.965.824E-5Satterstrom2020 E
ARHGEF4     AU2433302chr2:
131797715-131797715
AGexonicDe novononsynonymous SNVNM_032995
NM_015320
c.A874G
c.A874G
p.I292V
p.I292V
29.2-Yuen2017 G
ARHGEF4     AU4211304chr2:
131749774-131749774
ATintronicDe novo--Yuen2017 G
ARHGEF4     AU2569303chr2:
131804072-131804072
CAUTR3De novo--Yuen2017 G
ARHGEF4     14100.p1chr2:
131796442-131796442
GAexonicDe novononsynonymous SNVNM_032995
NM_015320
c.G584A
c.G584A
p.S195N
p.S195N
15.15-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
ARHGEF4     SSC10777chr2:
131796442-131796442
GAexonicDe novononsynonymous SNVNM_032995
NM_015320
c.G584A
c.G584A
p.S195N
p.S195N
15.15-Lim2017 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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