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Results for "GNAI1"

Variant Events: 19

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
GNAI1     1-0627-004chr7:
79861828-79861828
CGintergenicDe novo--Yuen2017 G
GNAI1     SSC11348chr7:
79840305-79840305
AGexonicDe novononsynonymous SNVNM_001256414
NM_002069
c.A455G
c.A611G
p.Q152R
p.Q204R
29.7-Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G
GNAI1     2-1719-003chr7:
79964656-79964656
AGintergenicDe novo--Yuen2017 G
GNAI1     1-0262-003Achr7:
79844305-79844305
TCintronicDe novo--Trost2022 G
GNAI1     AU0540302chr7:
79850415-79850415
AGintergenicDe novo--Trost2022 G
GNAI1     1-0564-003chr7:
79896548-79896548
TCintergenicDe novo--Yuen2017 G
GNAI1     1-0473-003chr7:
79783299-79783303
CATGACintronicDe novo--Trost2022 G
Yuen2017 G
GNAI1     AU4015303chr7:
79770079-79770079
ACintronicDe novo--Yuen2017 G
GNAI1     DEASD_0420_001chr7:
79846700-79846700
TCexonicDe novononsynonymous SNVNM_001256414
NM_002069
c.T800C
c.T956C
p.I267T
p.I319T
18.33-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GNAI1     2-1275-003chr7:
79845398-79845398
TCintronicDe novo--Trost2022 G
Yuen2017 G
GNAI1     REACH000426chr7:
79836241-79836241
AGintronicDe novo--Trost2022 G
GNAI1     AU2433303chr7:
79842681-79842681
TGintronicDe novo--Yuen2017 G
GNAI1     SP0233970chr7:
79840317-79840317
GAexonicDe novononsynonymous SNVNM_001256414
NM_002069
c.G467A
c.G623A
p.R156Q
p.R208Q
36.0-Trost2022 G
GNAI1     1-0347-003chr7:
79783054-79783056
CACATintronicDe novo--Trost2022 G
GNAI1     AU2207301chr7:
79827713-79827713
CTintronicDe novo--Trost2022 G
GNAI1     1-1038-003chr7:
79765571-79765571
GAintronicDe novo--Trost2022 G
GNAI1     MSSNG00040-003chr7:
79771399-79771399
AGintronicDe novo--Trost2022 G
GNAI1     14370.p1chr7:
79840305-79840305
AGexonicDe novononsynonymous SNVNM_001256414
NM_002069
c.A455G
c.A611G
p.Q152R
p.Q204R
29.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Turner2016 G
Zhou2022 GE
GNAI1     1-0923-003chr7:
79950034-79950034
AGintergenicDe 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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