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Results for "GLRB"

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
GLRB     12163.p1chr4:
158065056-158065056
CTexonicDe novosynonymous SNVNM_000824
NM_001166060
NM_001166061
c.C849T
c.C849T
c.C849T
p.L283L
p.L283L
p.L283L
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
GLRB     5-0017-004chr4:
158110354-158110354
AATintergenicDe novo--Yuen2017 G
GLRB     2-1562-004chr4:
158032218-158032218
CCAintronicDe novo--Yuen2017 G
GLRB     A17chr4:
158130670-158130670
CTintergenicDe novo--Wu2018 G
GLRB     2-0242-005chr4:
158131160-158131160
GAintergenicDe novo--Yuen2017 G
GLRB     1-0862-003chr4:
158006828-158006828
TTTCACAAAAAACCCCAintronicDe novo--Yuen2017 G
GLRB     2-1178-003chr4:
158069077-158069077
ACintronicDe novo--Yuen2016 G
Yuen2017 G
GLRB     AU047703chr4:
158078489-158078489
GAintronicDe novo--Yuen2017 G
GLRB     2-0278-003chr4:
158046297-158046297
ACintronicDe novo--Yuen2017 G
GLRB     1-0464-003chr4:
158070557-158070557
GTintronicDe novo--Yuen2017 G
GLRB     1-0025-004chr4:
158029735-158029735
CGintronicDe novo--Yuen2017 G
GLRB     11676.p1chr4:
158091801-158091801
GAexonicMosaicnonsynonymous SNVNM_000824
NM_001166060
c.G1415A
c.G1415A
p.R472Q
p.R472Q
34.0-Krupp2017 E
GLRB     2-1089-004chr4:
158076546-158076547
AGAintronicDe novo--Yuen2017 G
GLRB     AU3779302chr4:
158088112-158088112
AGintronicDe 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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