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Results for "DHRS2"

Variant Events: 19

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
DHRS2     2-1429-003chr14:
24250048-24250049
ACAintergenicDe novo--Yuen2017 G
DHRS2     iHART1880chr14:
24108211-24108212
TGTexonicPaternalframeshift deletionNM_005794
NM_182908
c.139delG
c.139delG
p.G47fs
p.G47fs
-4.978E-5Ruzzo2019 G
DHRS2     2-0318-003chr14:
24339899-24339899
TCintergenicDe novo--Yuen2017 G
DHRS2     iHART1557chr14:
24105983-24105983
TGsplicingPaternalsplicing--Ruzzo2019 G
DHRS2     AU1698302chr14:
24110203-24110203
CAintronicDe novo--Yuen2017 G
DHRS2     1-0181-004chr14:
24174069-24174069
AGintergenicDe novo--Yuen2017 G
DHRS2     1-0244-003chr14:
24131078-24131078
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
DHRS2     1-0010-003chr14:
24167133-24167133
CTintergenicDe novo--Yuen2017 G
DHRS2     AU3725302chr14:
24196101-24196101
CTintergenicDe novo--Yuen2017 G
DHRS2     2-1250-003chr14:
24167133-24167133
CTintergenicDe novo--Yuen2017 G
DHRS2     AU1848302chr14:
24255077-24255077
GAintergenicDe novo--Yuen2017 G
DHRS2     2-1277-004chr14:
24253689-24253689
CAintergenicDe novo--Yuen2017 G
DHRS2     2-1358-003chr14:
24107858-24107858
GTintronicDe novo--Yuen2017 G
DHRS2     AU1952305chr14:
24114410-24114410
GAexonicDe novononsynonymous SNVNM_005794
NM_182908
c.G791A
c.G802A
p.S264N
p.A268T
17.531.647E-5Yuen2017 G
DHRS2     1-0112-003chr14:
24354227-24354227
GAintergenicDe novo--Yuen2017 G
DHRS2     AU079605chr14:
24162885-24162885
AGintergenicDe novo--Yuen2017 G
DHRS2     12795.p1chr14:
24199208-24199208
CTintergenicDe novo--Turner2016 G
DHRS2     1-0354-003chr14:
24167901-24167901
GTintergenicDe novo--Yuen2017 G
DHRS2     1-0354-003chr14:
24167205-24167205
ATintergenicDe 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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