Variant Results

or

Results for "CCAR2"

Variant Events: 12

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

CCAR2

SP0090223

chr8:
22473325-22473325

C

T

exonic

De novo

nonsynonymous SNV

NM_021174

c.C1508T

p.P503L

13.22

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CCAR2

13300.p1

chr8:
22463609-22463609

A

G

exonic

De novo

nonsynonymous SNV

NM_021174

c.A70G

p.T24A

14.84

4.943E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

CCAR2

11108.p1

chr8:
22477133-22477133

A

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E

CCAR2

08C76914

chr8:
22476678-22476678

G

A

exonic

De novo

nonsynonymous SNV

NM_021174

c.G2537A

p.R846H

20.5

-

Neale2012 E

CCAR2

1-0558-003

chr8:
22462751-22462751

A

C

UTR5

De novo

-

Trost2022 G
Yuen2017 G

CCAR2

5-5077-003

chr8:
22474808-22474808

G

T

intronic

De novo

-

Trost2022 G

CCAR2

SP0248022

chr8:
22477143-22477143

T

TCAAA

intronic

De novo

-

6.0E-4

Trost2022 G
Trost2022 G

CCAR2

7-0281-003

chr8:
22465461-22465461

C

T

intronic

De novo

-

Trost2022 G

CCAR2

11818.p1

chr8:
22476896-22476896

C

T

intronic

13.0

-

Zhou2022 GE

CCAR2

1424JS0003

chr8:
22476678-22476678

G

A

exonic

De novo

nonsynonymous SNV

NM_021174

c.G2537A

p.R846H

20.5

-

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

CCAR2

13300_p1

chr8:
22463609-22463609

A

G

exonic

De novo

nonsynonymous SNV

NM_021174

c.A70G

p.T24A

14.84

4.943E-5

Fu2022 E

CCAR2

2-1800-003

chr8:
22473742-22473744

CAG

C

exonic

De novo

frameshift deletion

NM_021174

c.1827_1828del

p.T609fs

-

Trost2022 G
Zhou2022 GE

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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