Variant Results

or

Results for "GORASP2"

Variant Events: 13

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

GORASP2

12011.p1

chr2:
171840716-171840716

C

T

intergenic

De novo

-

Turner2016 G

GORASP2

AU4235302

chr2:
171787675-171787675

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GORASP2

2-1734-003

chr2:
171834059-171834065

AAGAGAG

AAGAG

intergenic

De novo

-

Yuen2017 G

GORASP2

C244803

chr2:
171813047-171813047

T

G

exonic

De novo

synonymous SNV

NM_001201428
NM_015530

c.T597G
c.T801G

p.A199A
p.A267A

-

Fu2022 E

GORASP2

2-1378-003

chr2:
171825920-171825920

G

T

intergenic

De novo

-

Yuen2017 G

GORASP2

ASC_R928

chr2:
171804923-171804923

A

G

exonic

De novo

nonsynonymous SNV

NM_015530

c.A127G

p.I43V

16.75

-

Fu2022 E

GORASP2

SSC06166

chr2:
171819397-171819397

T

G

exonic

De novo

nonsynonymous SNV

NM_001201428
NM_015530

c.T755G
c.T959G

p.L252R
p.L320R

20.9

-

Fu2022 E
Lim2017 E
Trost2022 G

GORASP2

1-1008-003

chr2:
171814881-171814881

A

G

intronic

De novo

-

Trost2022 G

GORASP2

SP0016229

chr2:
171822276-171822276

T

G

intronic

De novo

-

Fu2022 E

GORASP2

1-1159-004

chr2:
171820881-171820881

G

A

intronic

De novo

-

Trost2022 G

GORASP2

12951.p1

chr2:
171819397-171819397

T

G

exonic

De novo

nonsynonymous SNV

NM_001201428
NM_015530

c.T755G
c.T959G

p.L252R
p.L320R

20.9

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

GORASP2

1-0417-003

chr2:
171835821-171835821

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GORASP2

AU053503

chr2:
171837741-171837741

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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