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Results for "ARHGAP22"

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
ARHGAP22     14060.p1chr10:
49659238-49659238
CAintronicDe novo14.42-Satterstrom2020 E
ARHGAP22     2-1357-003chr10:
49863052-49863052
TTTCintergenicDe novo--Yuen2017 G
ARHGAP22     AU4237302chr10:
49806611-49806611
CTintronicDe novo--Yuen2017 G
ARHGAP22     3-0456-000Bchr10:
49816488-49816488
GCintronicDe novo--Yuen2017 G
ARHGAP22     SP0006823chr10:
49687793-49687793
GAexonicDe novononsynonymous SNVNM_001256026
NM_001256024
NM_001256025
NM_021226
c.C67T
c.C337T
c.C355T
c.C337T
p.R23W
p.R113W
p.R119W
p.R113W
14.83.175E-5Feliciano2019 E
ARHGAP22     AU047704chr10:
49733245-49733245
AGintronicDe novo--Yuen2017 G
ARHGAP22     1-0546-003chr10:
49787564-49787564
AGintronicDe novo--Yuen2017 G
ARHGAP22     5-0015-003chr10:
49763364-49763364
GAintronicDe novo--Yuen2017 G
ARHGAP22     3-0456-000chr10:
49816488-49816488
GCintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGAP22     AU3875301chr10:
49818763-49818763
AGintronicDe novo--Yuen2017 G
ARHGAP22     060-03-100251chr10:
49658540-49658540
GAexonicDe novosynonymous SNVNM_001256026
NM_001256024
NM_001256025
NM_021226
c.C1362T
c.C1680T
c.C1650T
c.C1632T
p.H454H
p.H560H
p.H550H
p.H544H
--Satterstrom2020 E
ARHGAP22     SSC09895chr10:
49659238-49659238
CAintronicDe novo14.42-Lim2017 E
ARHGAP22     1-0556-003chr10:
49688263-49688263
CTintronicDe 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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