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Results for "AKR1B15"

Variant Events: 5

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
AKR1B15     7-0095-003chr7:
134325761-134325761
TAintergenicDe novo--Yuen2017 G
AKR1B15     11061.p1chr7:
134253051-134253051
CTexonicDe novononsynonymous SNVNM_001080538c.C292Tp.R98W12.911.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
AKR1B15     EGAN00001101030chr7:
134261817-134261817
GAintronicDe novo-5.0E-4Satterstrom2020 E
AKR1B15     AU3721302chr7:
134316813-134316813
AGintergenicDe novo--Yuen2017 G
AKR1B15     AU3905302chr7:
134249044-134249044
GCintronicDe 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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