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Results for "GPRC6A"

Variant Events: 6

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
GPRC6A     AU3906301chr6:
117176185-117176185
CTintergenicDe novo--Yuen2017 G
GPRC6A     60-4031chr6:
117116988-117116988
GCexonicInheritednonsynonymous SNVNM_001286355
NM_001286354
NM_148963
c.C1346G
c.C1034G
c.C1559G
p.S449C
p.S345C
p.S520C
22.38.599E-6Patowary2019 E
GPRC6A     Cukier2014:7590chr6:
117113315-117113315
GAexonicUnknownnonsynonymous SNVNM_001286355
NM_001286354
NM_148963
c.C2558T
c.C2246T
c.C2771T
p.S853L
p.S749L
p.S924L
14.050.0165Cukier2014 E
GPRC6A     1-0976-003chr6:
117161018-117161018
CAintergenicDe novo--Yuen2017 G
GPRC6A     AU4246304chr6:
117178223-117178223
CTintergenicDe novo--Yuen2017 G
GPRC6A     1-0197-004chr6:
117184455-117184455
ATintergenicDe 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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