Variant Results

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Results for "ARHGAP18"

Variant Events: 27

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

ARHGAP18

11341.p1

chr6:
129979061-129979061

C

G

intronic

De novo

-

-

Turner2016 G

ARHGAP18

2-1415-004

chr6:
130125028-130125028

T

C

intergenic

De novo

-

-

Yuen2017 G

ARHGAP18

2-1511-003

chr6:
130056457-130056457

T

C

intergenic

De novo

-

-

Yuen2017 G

ARHGAP18

AU3724301

chr6:
130122067-130122067

C

T

intergenic

De novo

-

-

Yuen2017 G

ARHGAP18

1-0006-004

chr6:
130102464-130102464

C

CTATAAA

intergenic

De novo

-

-

Yuen2017 G

ARHGAP18

11341.p1

chr6:
129923797-129923797

T

C

intronic

De novo

-

-

Turner2016 G

ARHGAP18

AU4093301

chr6:
129907822-129907822

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARHGAP18

5-5162-003

chr6:
130006403-130006403

G

C

intronic

De novo

-

-

Trost2022 G

ARHGAP18

4-0075-003

chr6:
130020368-130020368

C

T

intronic

De novo

-

-

Trost2022 G

ARHGAP18

SP0082834

chr6:
129959739-129959739

C

T

exonic

De novo

nonsynonymous SNV

NM_033515

c.G352A

p.G118S

35.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ARHGAP18

MSSNG00255-005

chr6:
129900137-129900137

A

G

intronic

De novo

-

-

Trost2022 G

ARHGAP18

MT_99.3

chr6:
129923615-129923615

G

T

intronic

De novo

-

-

Trost2022 G

ARHGAP18

1-0868-003

chr6:
130051171-130051171

T

G

intergenic

De novo

-

-

Yuen2017 G

ARHGAP18

REACH000525

chr6:
129901237-129901237

C

CA

exonic

De novo

frameshift insertion

NM_033515

c.1877dupT

p.L626fs

-

-

Trost2022 G
Zhou2022 GE

ARHGAP18

10-0007-003

chr6:
130026319-130026319

C

T

intronic

De novo

-

-

Trost2022 G

ARHGAP18

AU071203

chr6:
130083946-130083946

A

C

intergenic

De novo

-

-

Yuen2017 G

ARHGAP18

JASD_Fam0216

chr6:
129963090-129963090

G

A

exonic

De novo

stopgain

NM_033515

c.C187T

p.R63X

23.4

Takata2018 E

ARHGAP18

1-0006-003

chr6:
130102464-130102464

C

CTATAAA

intergenic

De novo

-

-

Yuen2017 G

ARHGAP18

AU3760301

chr6:
130105689-130105689

A

G

intergenic

De novo

-

-

Yuen2017 G

ARHGAP18

AU3765303

chr6:
130132301-130132301

T

G

intergenic

De novo

-

-

Yuen2017 G

ARHGAP18

1-0323-004

chr6:
129964950-129964950

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARHGAP18

7-0127-003

chr6:
130071726-130071751

CAGAACAGGCTCCTCCACTTGACACT

C

intergenic

De novo

-

-

Yuen2017 G

ARHGAP18

3-0442-000

chr6:
129994586-129994586

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ARHGAP18

2-0127-004

chr6:
129935298-129935298

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARHGAP18

3-0185-000

chr6:
129923445-129923445

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARHGAP18

2-0242-004

chr6:
129996150-129996150

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARHGAP18

2-0006-003

chr6:
130018388-130018388

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 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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