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Results for "ARHGAP20"

Variant Events: 28

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
ARHGAP20     2-1620-004chr11:
110677447-110677447
CTintergenicDe novo--Yuen2017 G
ARHGAP20     AU3368302chr11:
110993004-110993004
GTintergenicDe novo--Yuen2017 G
ARHGAP20     1-0604-003chr11:
110650172-110650189
AAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAintergenicDe novo--Yuen2017 G
ARHGAP20     1-0173-004chr11:
110921589-110921589
CTintergenicDe novo--Yuen2017 G
ARHGAP20     2-1506-003chr11:
110889040-110889040
CTintergenicDe novo--Yuen2017 G
ARHGAP20     1-0054-004chr11:
110640861-110640861
CTintergenicDe novo--Yuen2017 G
ARHGAP20     1-0469-005chr11:
110546159-110546159
CGintronicDe novo--Yuen2017 G
ARHGAP20     AU4235303chr11:
110793928-110793928
GAintergenicDe novo--Yuen2017 G
ARHGAP20     AU024608chr11:
110901703-110901704
ATAintergenicDe novo--Yuen2017 G
ARHGAP20     7-0128-003chr11:
110889322-110889322
TGintergenicDe novo--Yuen2017 G
ARHGAP20     1-0067-004chr11:
110868700-110868700
CCTCATAGintergenicDe novo--Yuen2017 G
ARHGAP20     2-0057-003chr11:
110662961-110662961
CTintergenicDe novo--Yuen2017 G
ARHGAP20     2-0045-003chr11:
110550120-110550120
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGAP20     2-1508-004chr11:
110909084-110909084
GAintergenicDe novo--Yuen2017 G
ARHGAP20     AU4379301chr11:
110584256-110584256
GTupstreamDe novo--Yuen2017 G
ARHGAP20     5-0033-004chr11:
110786158-110786158
TCintergenicDe novo--Yuen2017 G
ARHGAP20     1-0045-003chr11:
110604034-110604034
ATintergenicDe novo--Yuen2017 G
ARHGAP20     AU3635301chr11:
110481410-110481410
GAintronicDe novo--Yuen2017 G
ARHGAP20     7-0055-003chr11:
110895709-110895709
AGintergenicDe novo--Yuen2017 G
ARHGAP20     1-0632-003chr11:
111062470-111062470
CTintergenicDe novo--Yuen2017 G
ARHGAP20     AU3891303chr11:
110937693-110937693
CTintergenicDe novo--Yuen2017 G
ARHGAP20     1-0139-005chr11:
110711383-110711383
CTintergenicDe novo--Yuen2017 G
ARHGAP20     AU3905302chr11:
110821369-110821369
CGintergenicDe novo--Yuen2017 G
ARHGAP20     3-0111-000chr11:
110693398-110693398
AGintergenicDe novo--Yuen2016 G
ARHGAP20     AU038203chr11:
110625734-110625734
TCintergenicDe novo--Yuen2017 G
ARHGAP20     1-0144-004chr11:
110952533-110952533
TCintergenicDe novo--Yuen2017 G
ARHGAP20     1-0541-004chr11:
110695228-110695232
ATATCAintergenicDe novo--Yuen2017 G
ARHGAP20     AU4392302chr11:
110685993-110685993
TCintergenicDe 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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