Variant Results

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Results for "GPR176"

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

GPR176

mAGRE1271

chr15:
40093961-40093961

C

T

exonic

Maternal

stopgain

NM_001271855
NM_007223
NM_001271854

c.G785A
c.G920A
c.G917A

p.W262X
p.W307X
p.W306X

37.0

-

Cirnigliaro2023 G

GPR176

mAGRE1268

chr15:
40093961-40093961

C

T

exonic

Maternal

stopgain

NM_001271855
NM_007223
NM_001271854

c.G785A
c.G920A
c.G917A

p.W262X
p.W307X
p.W306X

37.0

-

Cirnigliaro2023 G

GPR176

3-0216-000

chr15:
40144066-40144066

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GPR176

1-0736-003

chr15:
40213729-40213729

G

A

upstream

De novo

-

-

Yuen2017 G

GPR176

SSC02199

chr15:
40093418-40093418

T

C

exonic

De novo

nonsynonymous SNV

NM_001271855
NM_007223
NM_001271854

c.A1328G
c.A1463G
c.A1460G

p.Q443R
p.Q488R
p.Q487R

21.0

-

Fu2022 E

GPR176

iHART1268

chr15:
40093961-40093961

C

T

exonic

Maternal

stopgain

NM_001271855
NM_007223
NM_001271854

c.G785A
c.G920A
c.G917A

p.W262X
p.W307X
p.W306X

37.0

-

Ruzzo2019 G

GPR176

iHART1271

chr15:
40093961-40093961

C

T

exonic

Maternal

stopgain

NM_001271855
NM_007223
NM_001271854

c.G785A
c.G920A
c.G917A

p.W262X
p.W307X
p.W306X

37.0

-

Ruzzo2019 G

GPR176

AU012803

chr15:
40200820-40200820

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GPR176

MT_154.3

chr15:
40145178-40145178

T

C

intronic

De novo

-

-

Trost2022 G

GPR176

2-1097-003

chr15:
40176180-40176181

GT

AA

intronic

De novo

-

-

Trost2022 G

GPR176

2-1764-004

chr15:
40138577-40138577

G

A

intronic

De novo

-

-

Trost2022 G

GPR176

2-1753-003

chr15:
40141434-40141434

C

T

intronic

De novo

-

-

Trost2022 G

GPR176

1-0482-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GPR176

1018

chr15:
40108345-40108345

C

T

intronic

De novo

-

-

Trost2022 G

GPR176

7-0371-003

chr15:
40124587-40124587

C

A

intronic

De novo

-

-

Trost2022 G

GPR176

2-1275-003

chr15:
40167037-40167037

G

A

intronic

De novo

-

-

Trost2022 G
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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