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Results for "OR2T1"

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
OR2T1     1-0609-003chr1:
248596966-248596966
CTintergenicDe novo--Yuen2017 G
OR2T1     AU3397302chr1:
248605608-248605610
GGTGGTGTintergenicDe novo--Yuen2017 G
OR2T1     AU031404chr1:
248608780-248608780
GAintergenicDe novo--Yuen2017 G
OR2T1     AU066206chr1:
248581723-248581723
CTintergenicDe novo--Yuen2017 G
OR2T1     AU2433303chr1:
248609147-248609147
CGintergenicDe novo--Yuen2017 G
OR2T1     AU3721301chr1:
248590028-248590028
AGintergenicDe novo--Yuen2017 G
OR2T1     SSC09641chr1:
248569659-248569659
AGexonicDe novononsynonymous SNVNM_030904c.A364Gp.M122V7.92-Lim2017 E
OR2T1     AU4056302chr1:
248607223-248607223
GCintergenicDe novo--Yuen2017 G
OR2T1     AU1698301chr1:
248609976-248609976
CTintergenicDe novo--Yuen2017 G
OR2T1     13939.p1chr1:
248569659-248569659
AGexonicDe novononsynonymous SNVNM_030904c.A364Gp.M122V7.92-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
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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