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Results for "GNAO1"

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
GNAO1     AU072905chr16:
56264845-56264845
AGintronicDe novo--Yuen2017 G
GNAO1     Mahjani2021:67chr16:
56368661-56368661
GAexonicnonsynonymous SNVNM_020988
NM_138736
c.G485A
c.G485A
p.R162Q
p.R162Q
36.0-Mahjani2021 E
GNAO1     Lim2017:70227chr16:
56388838-56388838
GAexonicDe novononsynonymous SNVNM_020988c.G938Ap.R313H25.7-Lim2017 E
GNAO1     AU2215302chr16:
56235665-56235665
CTintronicDe novo--Yuen2017 G
GNAO1     AU3720302chr16:
56320452-56320452
CTintronicDe novo--Yuen2017 G
GNAO1     1-0627-006chr16:
56378466-56378466
CGUTR3De novo--Yuen2017 G
GNAO1     11370.p1chr16:
56388838-56388838
GAexonicDe novononsynonymous SNVNM_020988c.G938Ap.R313H25.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
GNAO1     AU1355301chr16:
56238811-56238811
CAintronicDe novo--Yuen2017 G
GNAO1     1-0073-003chr16:
56276506-56276506
TCintronicDe novo--Yuen2017 G
GNAO1     2-0299-005chr16:
56337659-56337659
GAintronicDe novo--Yuen2017 G
GNAO1     1-0292-005chr16:
56365646-56365649
CCTTCintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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