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Results for "ARHGAP30"

Variant Events: 6

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
ARHGAP30     Lim2017:35857chr1:
161017762-161017762
GAexonicDe novostopgainNM_001287602
NM_001287600
NM_001025598
NM_181720
c.C2518T
c.C2605T
c.C3049T
c.C2416T
p.R840X
p.R869X
p.R1017X
p.R806X
41.0-Lim2017 E
ARHGAP30     13628.p1 Complex Event; expand row to view variants  De novononframeshift deletionNM_001287602
NM_001287600
NM_001025598
NM_181720
NM_001287602
NM_001287600
NM_001025598
NM_181720
c.82_84del
c.169_171del
c.613_615del
c.613_615del
c.81_83del
c.168_170del
c.612_614del
c.612_614del
p.28_28del
p.57_57del
p.205_205del
p.205_205del
p.27_28del
p.56_57del
p.204_205del
p.204_205del
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ARHGAP30     DEASD_0282_001chr1:
161039302-161039302
GAintronicDe novo-8.314E-6Kosmicki2017 E
Satterstrom2020 E
ARHGAP30     11466.p1chr1:
161017762-161017762
GAexonicDe novostopgainNM_001287602
NM_001287600
NM_001025598
NM_181720
c.C2518T
c.C2605T
c.C3049T
c.C2416T
p.R840X
p.R869X
p.R1017X
p.R806X
41.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
ARHGAP30     7-0035-003chr1:
161036897-161036897
CAintronicDe novo--Yuen2017 G
ARHGAP30     AU3787302chr1:
161025285-161025285
AGintronicDe 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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