or
or
Exact

Results for "OGFR"

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
OGFR     DEASD_1087_001chr20:
61444623-61444623
CCGAGCCAGCCGAGAGCCCATCAGAGACCCCAGGCCCCAGCCCGGCAGGACCTACAAGGGATexonicDe novononframeshift insertionNM_007346c.1656_1657insGAGCCAGCCGAGAGCCCATCAGAGACCCCAGGCCCCAGCCCGGCAGGACCTACAAGGGATp.D552delinsDEPAESPSETPGPSPAGPTRD--Satterstrom2020 E
OGFR     547-09-112297chr20:
61444544-61444545
CACexonicDe novoframeshift deletionNM_007346c.1578delAp.P526fs--Satterstrom2020 E
OGFR     Cukier2014:17122chr20:
61444939-61444939
GCexonicUnknownnonsynonymous SNVNM_007346c.G1972Cp.G658R7.8670.0962Cukier2014 E
OGFR     2-1415-004chr20:
61438496-61438496
GAintronicDe novo--Yuen2017 G
OGFR     230-10-113219chr20:
61444720-61444780
AGCCCGGCAGGACCTACAAGGGATGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCAexonicDe novononframeshift deletionNM_007346c.1754_1813delp.585_605del--Satterstrom2020 E
OGFR     SJD_50chr20:
61444324-61444324
GAexonicMaternalnonsynonymous SNVNM_007346c.G1357Ap.D453N14.08-Toma2013 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