Variant Results

or

or

Results for "CSRP2"

Variant Events: 11

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

CSRP2

AU3811305

chr12:
77360871-77360871

C

G

intergenic

De novo

-

-

Yuen2017 G

CSRP2

A24

chr12:
77400591-77400591

G

A

intergenic

De novo

-

-

Wu2018 G

CSRP2

1-0404-003

chr12:
77376706-77376713

CTTACTTT

CTT

intergenic

De novo

-

-

Yuen2017 G

CSRP2

PN400292

chr12:
77256658-77256659

CG

C

intronic

Unknown

-

Leblond2019 E

CSRP2

AU074503

chr12:
77333547-77333548

GT

G

intergenic

De novo

-

-

Yuen2017 G

CSRP2

1-0677-003

chr12:
77388071-77388071

G

T

intergenic

De novo

-

-

Yuen2017 G

CSRP2

AU4392302

chr12:
77303109-77303109

A

T

intergenic

De novo

-

-

Yuen2017 G

CSRP2

PN400241

chr12:
77256658-77256659

CG

C

intronic

Unknown

-

Leblond2019 E

CSRP2

74-0355

chr12:
77345825-77345825

T

G

intergenic

De novo

-

-

Michaelson2012 G

CSRP2

PN400474

chr12:
77256658-77256659

CG

C

intronic

Unknown

-

Leblond2019 E

CSRP2

PN400127

chr12:
77256658-77256659

CG

C

intronic

Unknown

-

Leblond2019 E

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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