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Results for "OCA2"

Variant Events: 16

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
OCA2     2-1397-003chr15:
28185932-28185932
CTintronicDe novo--Yuen2017 G
OCA2     AU3051303chr15:
28127841-28127841
ATintronicDe novo--Yuen2017 G
OCA2     AU3371303chr15:
28291680-28291680
TCintronicDe novo--Yuen2017 G
OCA2     AU3698301chr15:
28126485-28126485
CTintronicDe novo--Yuen2017 G
OCA2     2-0223-004chr15:
28022493-28022493
GCintronicDe novo--Yuen2017 G
OCA2     PN400332chr15:
28230247-28230247
CTexonicUnknownnonsynonymous SNVNM_001300984
NM_000275
c.G1255A
c.G1327A
p.V419I
p.V443I
32.00.0028Leblond2019 E
OCA2     1-0590-003chr15:
28117206-28117206
ACintronicDe novo--Yuen2017 G
OCA2     2-1140-003chr15:
28281962-28281962
GAintronicDe novo--Yuen2017 G
OCA2     PN400383chr15:
28230247-28230247
CTexonicUnknownnonsynonymous SNVNM_001300984
NM_000275
c.G1255A
c.G1327A
p.V419I
p.V443I
32.00.0028Leblond2019 E
OCA2     7-0254-003chr15:
28022385-28022385
GAintronicDe novo--Yuen2017 G
OCA2     AU1635302chr15:
28000379-28000380
AGAUTR3De novo--Yuen2017 G
OCA2     1-0826-003chr15:
28113319-28113319
GCintronicDe novo--Yuen2017 G
OCA2     2-1357-003chr15:
28238974-28238974
GTintronicDe novo--Yuen2017 G
OCA2     A30chr15:
28008558-28008558
CAintronicDe novo--Wu2018 G
OCA2     2-0129-004chr15:
28013493-28013493
AGintronicDe novo--Yuen2017 G
OCA2     iHART1754chr15:
28261317-28261317
TTGAexonicMaternalframeshift insertionNM_000275
NM_001300984
c.822_823insTC
c.822_823insTC
p.T275fs
p.T275fs
-1.0E-4Ruzzo2019 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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