or
or
Exact

Results for "AKR1D1"

Variant Events: 4

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
AKR1D1     iHART2382chr7:
137798443-137798444
ACAexonicPaternalframeshift deletionNM_001190906
NM_005989
c.741delC
c.864delC
p.D247fs
p.D288fs
-6.647E-5Ruzzo2019 G
AKR1D1     12901.p1chr7:
137776536-137776536
CTexonicDe novononsynonymous SNVNM_001190906
NM_001190907
NM_005989
c.C284T
c.C284T
c.C284T
p.P95L
p.P95L
p.P95L
17.86-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
AKR1D1     1-0441-003chr7:
137794837-137794837
TCintronicDe novo--Yuen2016 G
Yuen2017 G
AKR1D1     SSC05893chr7:
137776536-137776536
CTexonicDe novononsynonymous SNVNM_001190906
NM_001190907
NM_005989
c.C284T
c.C284T
c.C284T
p.P95L
p.P95L
p.P95L
17.86-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