Variant Results

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Results for "CLASP2"

Variant Events: 16

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

CLASP2

12518.p1

chr3:
33796625-33796625

A

ACAC

intergenic

De novo

-

-

Werling2018 G

CLASP2

SP0039371

chr3:
33648243-33648243

T

C

exonic

De novo

nonsynonymous SNV

NM_001207044
NM_015097

c.A835G
c.A1537G

p.M279V
p.M513V

14.53

-

Feliciano2019 E

CLASP2

1-0772-003

chr3:
33667653-33667656

CAAA

CAA

intronic

De novo

-

-

Yuen2017 G

CLASP2

AU104A

chr3:
33626236-33626236

T

A

intronic

De novo

-

Satterstrom2020 E

CLASP2

2-1702-004

chr3:
33828444-33828444

G

C

intergenic

De novo

-

-

Yuen2017 G

CLASP2

2-1702-004

chr3:
33829651-33829651

A

C

intergenic

De novo

-

-

Yuen2017 G

CLASP2

AU075703

chr3:
33692335-33692335

A

G

intronic

De novo

-

-

Yuen2017 G

CLASP2

DEASD_0076_001

chr3:
33558580-33558580

C

T

exonic

De novo

nonsynonymous SNV

NM_001207044
NM_015097

c.G3238A
c.G3901A

p.A1080T
p.A1301T

18.8

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

CLASP2

AU4235302

chr3:
33708065-33708065

A

G

intronic

De novo

-

-

Yuen2017 G

CLASP2

2-1348-003

chr3:
33704058-33704058

C

G

intronic

De novo

-

-

Yuen2017 G

CLASP2

2-1235-004

chr3:
33642741-33642741

C

T

intronic

De novo

-

-

Yuen2017 G

CLASP2

AU018010

chr3:
33723638-33723638

A

T

intronic

De novo

-

-

Yuen2017 G

CLASP2

2-0098-003

chr3:
33648627-33648627

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

CLASP2

1-0683-003

chr3:
33582484-33582484

C

T

intronic

De novo

-

-

Yuen2017 G

CLASP2

1-0436-003

chr3:
33751155-33751155

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

CLASP2

7-0024-003

chr3:
33542264-33542264

C

T

intronic

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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