or
or
Exact

Results for "GNAS"

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
GNAS     SSC11872chr20:
57478739-57478739
GAexonicDe novononsynonymous SNVNM_001077489
NM_080426
NM_000516
NM_001077488
NM_001309840
NM_001309861
NM_080425
c.G280A
c.G283A
c.G325A
c.G328A
c.G148A
c.G148A
c.G2254A
p.A94T
p.A95T
p.A109T
p.A110T
p.A50T
p.A50T
p.A752T
32.0-Lim2017 E
GNAS     1-0585-003chr20:
57471690-57471690
GAintronicDe novo--Yuen2017 G
GNAS     1-0473-003chr20:
57513218-57513222
TAGAATintergenicDe novo--Yuen2017 G
GNAS     12857.p1chr20:
57430064-57430064
GAexonicDe novononsynonymous SNVNM_080425c.G1744Ap.D582N16.139.138E-6Satterstrom2020 E
GNAS     AU4013303chr20:
57507438-57507438
CTintergenicDe novo--Yuen2017 G
GNAS     14373.p1chr20:
57478739-57478739
GAexonicDe novononsynonymous SNVNM_001077489
NM_080426
NM_000516
NM_001077488
NM_001309840
NM_001309861
NM_080425
c.G280A
c.G283A
c.G325A
c.G328A
c.G148A
c.G148A
c.G2254A
p.A94T
p.A95T
p.A109T
p.A110T
p.A50T
p.A50T
p.A752T
32.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
GNAS     12359.p1chr20:
57480424-57480424
GAintronicMosaic--Dou2017 E
GNAS     11132.p1chr20:
57484241-57484241
CGexonicDe novononsynonymous SNVNM_001077489
NM_080426
NM_000516
NM_001077488
NM_001309840
NM_001309861
NM_080425
c.C510G
c.C513G
c.C555G
c.C558G
c.C378G
c.C378G
c.C2484G
p.I170M
p.I171M
p.I185M
p.I186M
p.I126M
p.I126M
p.I828M
17.71-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
GNAS     Li2017:23700chr20:
57428664-57428664
GAexonicUnknownstopgainNM_080425c.G344Ap.W115X26.8-Li2017 T
GNAS     1-0073-003chr20:
57529432-57529432
GAintergenicDe novo--Yuen2017 G
GNAS     AU4211304chr20:
57464338-57464338
CTUTR5De 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 notesView
More