Variant Results

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or

Results for "ARHGAP10"

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

ARHGAP10

AU061104

chr4:
148736455-148736455

C

T

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

7-0082-003

chr4:
148834685-148834685

C

T

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

AU2123302

chr4:
148677035-148677035

A

G

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

7-0080-003

chr4:
148699857-148699857

C

T

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

AU2000304

chr4:
148723346-148723346

C

A

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

12498.p1

chr4:
148856937-148856937

G

C

intronic

De novo

-

-

Turner2016 G

ARHGAP10

12793.p1

chr4:
148986808-148986808

G

A

intronic

De novo

-

-

Turner2016 G

ARHGAP10

AU3051302

chr4:
148848153-148848153

G

A

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

SP0001890

chr4:
148968201-148968201

A

G

exonic

De novo

nonsynonymous SNV

NM_024605

c.A2026G

p.I676V

0.049

Feliciano2019 E

ARHGAP10

2-1093-005

chr4:
148978801-148978801

C

T

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

1572023

chr4:
148886268-148886268

A

C

exonic

De novo

nonsynonymous SNV

NM_024605

c.A1544C

p.K515T

12.83

-

Satterstrom2020 E

ARHGAP10

AU4079302

chr4:
148957631-148957631

G

C

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

2-1127-003

chr4:
148666508-148666508

C

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ARHGAP10

AU3865301

chr4:
148779027-148779027

A

G

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

2-1505-004

chr4:
148734782-148734782

C

T

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

1-0336-003

chr4:
148788806-148788813

AGAGATTG

A

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

1-0487-003

chr4:
148783465-148783465

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ARHGAP10

iHART2506

chr4:
148768325-148768326

GA

G

exonic

Maternal

frameshift deletion

NM_024605

c.337delA

p.I113fs

-

Ruzzo2019 G

ARHGAP10

13400.p1

chr4:
148968134-148968134

G

A

exonic

De novo

synonymous SNV

NM_024605

c.G1959A

p.G653G

3.49

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

ARHGAP10

1-0490-003

chr4:
148893040-148893040

G

A

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

2-1066-003

chr4:
148825666-148825666

T

G

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

1-0901-003

chr4:
148841332-148841332

T

C

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

2-1148-004

chr4:
148780648-148780648

C

T

intronic

De novo

-

-

Yuen2017 G

ARHGAP10

iHART2542

chr4:
148743964-148743964

C

T

exonic

Paternal

stopgain

NM_024605

c.C241T

p.R81X

22.3

Ruzzo2019 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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