Variant Results

or

Results for "ARHGAP30"

Variant Events: 12

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

SSC00392

chr1:
161017762-161017762

G

A

exonic

stopgain

NM_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

-

Antaki2022 GE

ARHGAP30

13628.p1

Complex Event; expand row to view variants

De novo

nonframeshift deletion

NM_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
Zhou2022 GE

ARHGAP30

1-0867-003

chr1:
161031746-161031746

C

T

intronic

De novo

-

Trost2022 G

ARHGAP30

REACH000150

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

ARHGAP30

11466.p1

chr1:
161017762-161017762

G

A

exonic

De novo

stopgain

NM_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
Zhou2022 GE

ARHGAP30

AU3787302

chr1:
161025285-161025285

A

G

intronic

De novo

-

Yuen2017 G

ARHGAP30

35857

chr1:
161017762-161017762

G

A

exonic

De novo

stopgain

NM_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

-

Fu2022 E
Trost2022 G

ARHGAP30

Lim2017:35857

chr1:
161017762-161017762

G

A

exonic

De novo

stopgain

NM_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

DEASD_0282_001

chr1:
161039302-161039302

G

A

intronic

De novo

-

8.314E-6

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

ARHGAP30

SP0062895

chr1:
161021229-161021229

G

A

exonic

De novo

nonsynonymous SNV

NM_001287602
NM_001287600
NM_001025598
NM_181720

c.C764T
c.C851T
c.C1295T
c.C1295T

p.P255L
p.P284L
p.P432L
p.P432L

21.9

2.474E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ARHGAP30

7-0035-003

chr1:
161036897-161036897

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGAP30

SSC08289

chr1:
161023096-161023099

ACTC

A

exonic

De novo

nonframeshift deletion

NM_001287602
NM_001287600
NM_001025598
NM_181720

c.82_84del
c.169_171del
c.613_615del
c.613_615del

p.28_28del
p.57_57del
p.205_205del
p.205_205del

-

Fu2022 E
Trost2022 G

Source Variant Information

, -

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 notes	View
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