Variant Results

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or

Results for "ARHGAP21"

Variant Events: 24

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

ARHGAP21

A31

chr10:
24883925-24883925

A

ACAAAA

exonic

De novo

frameshift insertion

NM_020824

c.3829_3830insTTTTG

p.L1277fs

-

-

Wu2018 G

ARHGAP21

AU4028302

chr10:
24931755-24931755

C

T

intronic

De novo

-

-

Yuen2017 G

ARHGAP21

A31

chr10:
24883878-24883888

CCTTATTTTTT

C

exonic

De novo

frameshift deletion

NM_020824

c.3867_3876del

p.E1289fs

-

-

Wu2018 G

ARHGAP21

1-0488-003

chr10:
24885247-24885247

C

T

intronic

De novo

-

-

Yuen2017 G

ARHGAP21

AU3610302

chr10:
25128054-25128054

A

G

intergenic

De novo

-

-

Yuen2017 G

ARHGAP21

7-0100-003

chr10:
24876395-24876395

A

ACTATCAAAG

intronic

De novo

-

-

Yuen2017 G

ARHGAP21

12645_p1

chr10:
24896811-24896811

A

G

exonic

De novo

nonsynonymous SNV

NM_020824

c.T2444C

p.I815T

13.0

-

Fu2022 E

ARHGAP21

AU027506

chr10:
25076959-25076959

A

G

intergenic

De novo

-

-

Yuen2017 G

ARHGAP21

AU2293302

chr10:
25065113-25065113

G

T

intergenic

De novo

-

-

Yuen2017 G

ARHGAP21

5-0095-003

chr10:
24967845-24967845

C

T

intronic

De novo

-

-

Yuen2017 G

ARHGAP21

Li2017:20559

chr10:
24908449-24908449

G

A

exonic

Unknown

nonsynonymous SNV

NM_020824

c.C2375T

p.S792L

23.1

Li2017 T

ARHGAP21

AU018010

chr10:
25009076-25009076

C

G

intronic

De novo

-

-

Yuen2017 G

ARHGAP21

SP0049129

chr10:
24923997-24923997

T

C

exonic

De novo

nonsynonymous SNV

NM_020824

c.A304G

p.I102V

23.8

-

Feliciano2019 E
Fu2022 E

ARHGAP21

SP0136227

chr10:
24923972-24923975

CCTT

C

exonic

De novo

nonframeshift deletion

NM_020824

c.326_328del

p.109_110del

-

-

Fu2022 E

ARHGAP21

1-0484-003

chr10:
25059424-25059444

GAGAGCGTAAAGGAAAGGAAA

G

intergenic

De novo

-

-

Yuen2017 G

ARHGAP21

SP0041461

chr10:
24910265-24910265

C

T

exonic

De novo

nonsynonymous SNV

NM_020824

c.G559A

p.E187K

16.27

Fu2022 E

ARHGAP21

2-1355-004

chr10:
24891928-24891931

AATC

A

intronic

De novo

-

-

Yuen2017 G

ARHGAP21

AU3782302

chr10:
24994514-24994514

G

A

intronic

De novo

-

-

Yuen2017 G

ARHGAP21

DEASD_3012_001

chr10:
24874956-24874956

C

T

exonic

De novo

nonsynonymous SNV

NM_020824

c.G4262A

p.R1421K

35.0

-

Fu2022 E

ARHGAP21

SP0034176

chr10:
24889664-24889664

C

T

exonic

De novo

nonsynonymous SNV

NM_020824

c.G3043A

p.D1015N

23.5

Fu2022 E

ARHGAP21

GEA491

chr10:
24922392-24922394

CTT

C

exonic

De novo

frameshift deletion

NM_020824

c.377_378del

p.K126fs

-

-

Fu2022 E

ARHGAP21

12645.p1

chr10:
24896811-24896811

A

G

exonic

De novo

nonsynonymous SNV

NM_020824

c.T2444C

p.I815T

13.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

ARHGAP21

1-0121-003

chr10:
24916513-24916516

CTTT

CT

intronic

De novo

-

-

Yuen2017 G

ARHGAP21

Li2017:23258

chr10:
24885704-24885704

G

A

exonic

Unknown

stopgain

NM_020824

c.C3442T

p.R1148X

40.0

-

Li2017 T

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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