Variant Results

or

or

Results for "ARID1A"

Variant Events: 17

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

ARID1A

SP0123551

chr1:
27100048-27100048

T

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G

ARID1A

SP0007383

chr1:
27023206-27023206

C

G

exonic

De novo

nonsynonymous SNV

NM_006015
NM_139135

c.C312G
c.C312G

p.N104K
p.N104K

12.93

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ARID1A

SP0074860

chr1:
27101997-27101997

A

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

ARID1A

1-0479-006

chr1:
27026559-27026559

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARID1A

NDAR_INVEG601VP6_wes1

chr1:
27088806-27088806

A

T

exonic

De novo

synonymous SNV

NM_006015
NM_139135

c.A2415T
c.A2415T

p.P805P
p.P805P

-

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ARID1A

SP0055288

chr1:
27102129-27102129

A

G

exonic

De novo

synonymous SNV

NM_006015
NM_139135

c.A5055G
c.A4404G

p.T1685T
p.T1468T

9.154

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

ARID1A

SP0038084

chr1:
27022241-27022241

G

A

upstream

De novo

-

-

Trost2022 G

ARID1A

MSSNG00016-003

chr1:
27021873-27021879

GGCGGCC

G

upstream

De novo

-

-

Trost2022 G

ARID1A

AU4092302

chr1:
27090565-27090565

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARID1A

SP0059827

chr1:
27094328-27094328

T

G

exonic

De novo

stopgain

NM_006015
NM_139135

c.T3036G
c.T3036G

p.Y1012X
p.Y1012X

38.0

-

Fu2022 E

ARID1A

SP0081788

chr1:
27107183-27107183

C

T

exonic

De novo

nonsynonymous SNV

NM_006015
NM_139135

c.C6794T
c.C6143T

p.P2265L
p.P2048L

14.15

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ARID1A

SP0083841

chr1:
27094328-27094328

T

G

exonic

De novo

stopgain

NM_006015
NM_139135

c.T3036G
c.T3036G

p.Y1012X
p.Y1012X

38.0

-

Fu2022 E

ARID1A

MSSNG00424-003

chr1:
27073560-27073561

AC

A

intronic

De novo

-

-

Trost2022 G

ARID1A

2-1806-003

chr1:
27038194-27038194

C

G

intronic

De novo

-

-

Trost2022 G

ARID1A

SP0034419

chr1:
27023808-27023808

C

T

exonic

De novo

nonsynonymous SNV

NM_006015
NM_139135

c.C914T
c.C914T

p.A305V
p.A305V

14.0

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

ARID1A

SP0013188

chr1:
27099304-27099304

A

G

exonic

nonsynonymous SNV

NM_006015
NM_139135

c.A3541G
c.A3541G

p.R1181G
p.R1181G

17.43

-

Zhou2022 GE

ARID1A

5-5186-003

chr1:
27098820-27098820

A

C

intronic

De novo

-

-

Trost2022 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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