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Results for "GLRA2"

Variant Events: 10

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
GLRA2     12724.p1chrX:
14548195-14548195
GCexonicDe novononsynonymous SNVNM_001118886
NM_002063
NM_001118885
c.G16C
c.G16C
c.G16C
p.V6L
p.V6L
p.V6L
13.54-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
GLRA2     11842.p1chrX:
14599441-14599441
AGexonicDe novononsynonymous SNVNM_001118886
NM_002063
NM_001118885
NM_001171942
c.A407G
c.A407G
c.A407G
c.A140G
p.N136S
p.N136S
p.N136S
p.N47S
25.1-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
GLRA2     AU4467302chrX:
14647957-14647957
GAintronicDe novo--Yuen2017 G
GLRA2     2-1342-003chrX:
14588365-14588371
CAAATAACAAintronicDe novo--Yuen2017 G
GLRA2     2-1143-003chrX:
14793287-14793289
TTTTTTGTTintergenicDe novo--Yuen2017 G
GLRA2     AU3702307chrX:
14790162-14790162
GAintergenicDe novo--Yuen2017 G
GLRA2     AU035204chrX:
14748509-14748509
AGexonicUnknownnonsynonymous SNVNM_001118886
NM_002063
NM_001118885
NM_001171942
c.A1261G
c.A1261G
c.A1261G
c.A994G
p.I421V
p.I421V
p.I421V
p.I332V
12.124.0E-4Chahrour2012 E
GLRA2     AU4188302chrX:
14630568-14630568
TCintronicDe novo--Yuen2017 G
GLRA2     AU024004chrX:
14739883-14739883
AGintronicDe novo--Yuen2017 G
GLRA2     AU3399302chrX:
14655066-14655071
TTCTCTTTCTintronicDe 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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