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Results for "GLRA1"

Variant Events: 7

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
GLRA1     AU3451301chr5:
151281741-151281741
AGintronicDe novo--Yuen2017 G
GLRA1     2-1646-003chr5:
151207698-151207698
TCintronicDe novo--Yuen2017 G
GLRA1     AU4452302chr5:
151209073-151209073
CTintronicDe novo--Yuen2017 G
GLRA1     AU058105chr5:
151330709-151330709
TCintergenicDe novo--Yuen2017 G
GLRA1     AU-12001chr5:
151239545-151239545
GAexonicnonsynonymous SNVNM_001292000
NM_000171
NM_001146040
c.C28T
c.C277T
c.C277T
p.R10W
p.R93W
p.R93W
18.532.473E-5Doan2019 E
GLRA1     ASC_CA_150_Achr5:
151234735-151234735
CGexonicDe novononsynonymous SNVNM_001292000
NM_000171
NM_001146040
c.G314C
c.G563C
c.G563C
p.G105A
p.G188A
p.G188A
26.0-Satterstrom2020 E
GLRA1     AU018010chr5:
151322942-151322942
GCintergenicDe 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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