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Results for "ARHGEF2"

Variant Events: 7

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
ARHGEF2     2-0278-003chr1:
155964093-155964093
GTintergenicDe novo--Yuen2017 G
ARHGEF2     DEASD_0278_001chr1:
155932442-155932442
GAexonicDe novononsynonymous SNVNM_001162383
NM_001162384
NM_004723
c.C1043T
c.C1040T
c.C959T
p.A348V
p.A347V
p.A320V
28.3-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ARHGEF2     2-1323-003chr1:
155963945-155963945
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ARHGEF2     1-0006-003chr1:
155953749-155953751
GCTGintergenicDe novo--Yuen2017 G
ARHGEF2     08C72260chr1:
155927654-155927654
GAexonicDe novononsynonymous SNVNM_001162383
NM_001162384
NM_004723
c.C1565T
c.C1562T
c.C1481T
p.S522L
p.S521L
p.S494L
21.81.694E-5Satterstrom2020 E
ARHGEF2     AU0146301chr1:
155935398-155935398
CTintronicDe novo--Yuen2017 G
ARHGEF2     AU4483301chr1:
155921140-155921140
CAintronicDe 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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