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Results for "AKR1C2"

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
AKR1C2     AU2792301chr10:
5049984-5049984
ACintronicDe novo--Yuen2017 G
AKR1C2     476-09-111962chr10:
5042698-5042698
CTintronicDe novo--Satterstrom2020 E
AKR1C2     AU3605304chr10:
5044811-5044811
TGintronicDe novo--Yuen2017 G
AKR1C2     13399.p1chr10:
5032204-5032204
AGexonicDe novononsynonymous SNVNM_205845
NM_001354
c.T956C
c.T956C
p.F319S
p.F319S
10.63-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
AKR1C2     14122.p1chr10:
5040898-5040898
GAexonicDe novosynonymous SNVNM_205845
NM_001354
c.C489T
c.C489T
p.I163I
p.I163I
-8.239E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
AKR1C2     11214.p1chr10:
5042775-5042775
GTexonicDe novononsynonymous SNVNM_001135241
NM_205845
NM_001354
c.C336A
c.C336A
c.C336A
p.D112E
p.D112E
p.D112E
15.42-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
AKR1C2     2-1364-003chr10:
5087016-5087016
ATintergenicDe novo--Yuen2017 G
AKR1C2     2-1364-003chr10:
5083053-5083053
CTintergenicDe novo--Yuen2017 G
AKR1C2     AU4250301chr10:
5041589-5041589
GCintronicDe novo--Yuen2017 G
AKR1C2     004-05-102519chr10:
5042572-5042572
CGUTR3De novo--Satterstrom2020 E
AKR1C2     SSC02800chr10:
5042775-5042775
GTexonicDe novononsynonymous SNVNM_001135241
NM_205845
NM_001354
c.C336A
c.C336A
c.C336A
p.D112E
p.D112E
p.D112E
15.42-Lim2017 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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