Variant Results

or

Results for "GNAO1"

Variant Events: 14

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

GNAO1

Lim2017:70227

chr16:
56388838-56388838

G

A

exonic

De novo

nonsynonymous SNV

NM_020988

c.G938A

p.R313H

25.7

-

Lim2017 E

GNAO1

AU2215302

chr16:
56235665-56235665

C

T

intronic

De novo

-

Yuen2017 G

GNAO1

1-0627-006

chr16:
56378466-56378466

C

G

UTR3

De novo

-

Yuen2017 G

GNAO1

1-0073-003

chr16:
56276506-56276506

T

C

intronic

De novo

-

Yuen2017 G

GNAO1

2-0299-005

chr16:
56337659-56337659

G

A

intronic

De novo

-

Yuen2017 G

GNAO1

1-0292-005

chr16:
56365646-56365649

CCTT

C

intronic

De novo

-

Yuen2017 G

GNAO1

AU072905

chr16:
56264845-56264845

A

G

intronic

De novo

-

Yuen2017 G

GNAO1

Mahjani2021:67

chr16:
56368661-56368661

G

A

exonic

nonsynonymous SNV

NM_020988
NM_138736

c.G485A
c.G485A

p.R162Q
p.R162Q

36.0

-

Mahjani2021 E

GNAO1

AU3720302

chr16:
56320452-56320452

C

T

intronic

De novo

-

Yuen2017 G

GNAO1

SP0042053

chr16:
56378325-56378325

T

C

UTR3

De novo

-

Fu2022 E

GNAO1

11370.p1

chr16:
56388838-56388838

G

A

exonic

De novo

nonsynonymous SNV

NM_020988

c.G938A

p.R313H

25.7

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

GNAO1

SP0057862

chr16:
56381068-56381071

CCCT

C

UTR3

De novo

-

Fu2022 E

GNAO1

SP0114486

chr16:
56379738-56379738

G

A

UTR3

De novo

-

Fu2022 E

GNAO1

AU1355301

chr16:
56238811-56238811

C

A

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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