Variant Results

or

or

Results for "ARHGAP31"

Variant Events: 20

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

ARHGAP31

5-5065-003

chr3:
119093502-119093502

G

T

intronic

De novo

-

-

Trost2022 G

ARHGAP31

2-1232-003

chr3:
119111227-119111227

C

T

intronic

De novo

-

-

Trost2022 G

ARHGAP31

2-1359-004

chr3:
119135686-119135686

G

A

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

ARHGAP31

4-0073-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Trost2022 G

ARHGAP31

5-5162-003

chr3:
119081645-119081645

T

G

intronic

De novo

-

-

Trost2022 G

ARHGAP31

1-0208-003

chr3:
119086842-119086842

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARHGAP31

iHART3168

chr3:
119087351-119087351

T

A

exonic

Maternal

stopgain

NM_020754

c.T336A

p.Y112X

33.0

-

Ruzzo2019 G

ARHGAP31

1-0323-003

chr3:
119103938-119103938

A

AT

intronic

De novo

-

-

Yuen2017 G

ARHGAP31

7-0254-004

chr3:
119047750-119047750

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARHGAP31

AU3761302

chr3:
119087351-119087351

T

A

exonic

Maternal

stopgain

NM_020754

c.T336A

p.Y112X

33.0

-

Cirnigliaro2023 G

ARHGAP31

AU3761302

chr3:
119023925-119023931

CAGAGAG

CAGAG

intronic

De novo

-

-

Yuen2017 G

ARHGAP31

AU1274304

chr3:
119084157-119084157

A

G

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ARHGAP31

3-0025-000

chr3:
119109669-119109669

C

T

exonic

De novo

synonymous SNV

NM_020754

c.C720T

p.A240A

-

-

Tammimies2015 E
Trost2022 G
Zhou2022 GE

ARHGAP31

1-0751-003

chr3:
119069496-119069496

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARHGAP31

AU3727303

chr3:
119089472-119089472

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARHGAP31

A20

chr3:
119049736-119049736

G

A

intronic

De novo

-

-

Wu2018 G

ARHGAP31

A2

chr3:
119136197-119136197

G

A

UTR3

De novo

-

-

Wu2018 G

ARHGAP31

SP0152806

chr3:
119134577-119134577

C

T

exonic

De novo

synonymous SNV

NM_020754

c.C3801T

p.P1267P

0.004

Fu2022 E
Trost2022 G
Zhou2022 GE

ARHGAP31

SP0152807

chr3:
119134577-119134577

C

T

exonic

synonymous SNV

NM_020754

c.C3801T

p.P1267P

0.004

Zhou2022 GE

ARHGAP31

A22

chr3:
119029971-119029971

G

A

intronic

De novo

-

-

Wu2018 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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