or
or
Exact

Results for "OR6N2"

Variant Events: 11

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
OR6N2     2-1148-004chr1:
158769714-158769714
CAintergenicDe novo--Yuen2017 G
OR6N2     12011.p1chr1:
158774668-158774668
GAintergenicDe novo--Turner2016 G
OR6N2     5-0055-003chr1:
158770929-158770933
TAGTCTintergenicDe novo--Yuen2017 G
OR6N2     5-0055-004chr1:
158770929-158770933
TAGTCTintergenicDe novo--Yuen2017 G
OR6N2     11470.p1 Complex Event; expand row to view variants  De novosynonymous SNVNM_001005278
NM_001005278
c.A696G
c.A696T
p.S232S
p.S232S
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
OR6N2     AU3729301chr1:
158765677-158765677
GAintergenicDe novo--Yuen2017 G
OR6N2     1-0534-006chr1:
158793180-158793180
CTintergenicDe novo--Yuen2017 G
OR6N2     2-1486-003chr1:
158760920-158760920
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
OR6N2     AU2863302chr1:
158783477-158783477
TCintergenicDe novo--Yuen2017 G
OR6N2     AU3302302chr1:
158799969-158799969
GAintergenicDe novo--Yuen2017 G
OR6N2     SSC02938chr1:
158746730-158746730
TCexonicDe novosynonymous SNVNM_001005278c.A696Gp.S232S--Lim2017 E
Source Variant Information

, -

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
More