Variant Results

or

Results for "ARHGAP20"

Variant Events: 31

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

ARHGAP20

2-1620-004

chr11:
110677447-110677447

C

T

intergenic

De novo

-

Yuen2017 G

ARHGAP20

AU3368302

chr11:
110993004-110993004

G

T

intergenic

De novo

-

Yuen2017 G

ARHGAP20

1-0604-003

chr11:
110650172-110650189

AAGAGAGAGAGAGAGAGA

AAGAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

ARHGAP20

1-0173-004

chr11:
110921589-110921589

C

T

intergenic

De novo

-

Yuen2017 G

ARHGAP20

2-1506-003

chr11:
110889040-110889040

C

T

intergenic

De novo

-

Yuen2017 G

ARHGAP20

SP0088249

chr11:
110494885-110494885

C

T

splicing

De novo

splicing

22.5

-

Fu2022 E

ARHGAP20

1-0054-004

chr11:
110640861-110640861

C

T

intergenic

De novo

-

Yuen2017 G

ARHGAP20

1-0469-005

chr11:
110546159-110546159

C

G

intronic

De novo

-

Yuen2017 G

ARHGAP20

AU4235303

chr11:
110793928-110793928

G

A

intergenic

De novo

-

Yuen2017 G

ARHGAP20

SP0105324

chr11:
110582866-110582866

C

G

exonic

De novo

nonsynonymous SNV

NM_020809

c.G89C

p.G30A

7.669

-

Fu2022 E

ARHGAP20

AU024608

chr11:
110901703-110901704

AT

A

intergenic

De novo

-

Yuen2017 G

ARHGAP20

7-0128-003

chr11:
110889322-110889322

T

G

intergenic

De novo

-

Yuen2017 G

ARHGAP20

1-0067-004

chr11:
110868700-110868700

C

CTCATAG

intergenic

De novo

-

Yuen2017 G

ARHGAP20

2-0057-003

chr11:
110662961-110662961

C

T

intergenic

De novo

-

Yuen2017 G

ARHGAP20

2-0045-003

chr11:
110550120-110550120

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ARHGAP20

2-1508-004

chr11:
110909084-110909084

G

A

intergenic

De novo

-

Yuen2017 G

ARHGAP20

AU4379301

chr11:
110584256-110584256

G

T

upstream

De novo

-

Yuen2017 G

ARHGAP20

5-0033-004

chr11:
110786158-110786158

T

C

intergenic

De novo

-

Yuen2017 G

ARHGAP20

1-0045-003

chr11:
110604034-110604034

A

T

intergenic

De novo

-

Yuen2017 G

ARHGAP20

AU3635301

chr11:
110481410-110481410

G

A

intronic

De novo

-

Yuen2017 G

ARHGAP20

7-0055-003

chr11:
110895709-110895709

A

G

intergenic

De novo

-

Yuen2017 G

ARHGAP20

1-0632-003

chr11:
111062470-111062470

C

T

intergenic

De novo

-

Yuen2017 G

ARHGAP20

AU3891303

chr11:
110937693-110937693

C

T

intergenic

De novo

-

Yuen2017 G

ARHGAP20

1-0139-005

chr11:
110711383-110711383

C

T

intergenic

De novo

-

Yuen2017 G

ARHGAP20

AU3905302

chr11:
110821369-110821369

C

G

intergenic

De novo

-

Yuen2017 G

ARHGAP20

3-0111-000

chr11:
110693398-110693398

A

G

intergenic

De novo

-

Yuen2016 G

ARHGAP20

150689

chr11:
110461517-110461517

A

T

exonic

De novo

nonsynonymous SNV

NM_001258415
NM_001258417
NM_001258418
NM_001258416
NM_020809

c.T1091A
c.T1052A
c.T1052A
c.T1082A
c.T1160A

p.L364H
p.L351H
p.L351H
p.L361H
p.L387H

20.7

-

Fu2022 E

ARHGAP20

AU038203

chr11:
110625734-110625734

T

C

intergenic

De novo

-

Yuen2017 G

ARHGAP20

1-0144-004

chr11:
110952533-110952533

T

C

intergenic

De novo

-

Yuen2017 G

ARHGAP20

1-0541-004

chr11:
110695228-110695232

ATATC

A

intergenic

De novo

-

Yuen2017 G

ARHGAP20

AU4392302

chr11:
110685993-110685993

T

C

intergenic

De novo

-

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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