Variant Results

or

or

Results for "DHRS2"

Variant Events: 22

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

2-1429-003

chr14:
24250048-24250049

AC

A

intergenic

De novo

-

-

Yuen2017 G

DHRS2

3-0774-000A

chr14:
24107876-24107876

T

C

intronic

De novo

-

-

Trost2022 G

DHRS2

iHART1880

chr14:
24108211-24108212

TG

T

exonic

Paternal

frameshift deletion

NM_005794
NM_182908

c.139delG
c.139delG

p.G47fs
p.G47fs

-

Ruzzo2019 G

DHRS2

2-0318-003

chr14:
24339899-24339899

T

C

intergenic

De novo

-

-

Yuen2017 G

DHRS2

iHART1557

chr14:
24105983-24105983

T

G

splicing

Paternal

splicing

-

-

Ruzzo2019 G

DHRS2

AU1698302

chr14:
24110203-24110203

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DHRS2

1-0181-004

chr14:
24174069-24174069

A

G

intergenic

De novo

-

-

Yuen2017 G

DHRS2

mAGRE1880

chr14:
24108211-24108212

TG

T

exonic

Paternal

frameshift deletion

NM_005794
NM_182908

c.139delG
c.139delG

p.G47fs
p.G47fs

-

Cirnigliaro2023 G

DHRS2

1-0244-003

chr14:
24131078-24131078

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

DHRS2

mAGRE1557

chr14:
24105983-24105983

T

G

splicing

Paternal

splicing

-

-

Cirnigliaro2023 G

DHRS2

1-0010-003

chr14:
24167133-24167133

C

T

intergenic

De novo

-

-

Yuen2017 G

DHRS2

AU3725302

chr14:
24196101-24196101

C

T

intergenic

De novo

-

-

Yuen2017 G

DHRS2

2-1250-003

chr14:
24167133-24167133

C

T

intergenic

De novo

-

-

Yuen2017 G

DHRS2

AU1848302

chr14:
24255077-24255077

G

A

intergenic

De novo

-

-

Yuen2017 G

DHRS2

2-1277-004

chr14:
24253689-24253689

C

A

intergenic

De novo

-

-

Yuen2017 G

DHRS2

2-1358-003

chr14:
24107858-24107858

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DHRS2

AU1952305

chr14:
24114410-24114410

G

A

exonic

De novo

nonsynonymous SNV

NM_005794
NM_182908

c.G791A
c.G802A

p.S264N
p.A268T

17.53

Trost2022 G
Yuen2017 G
Zhou2022 GE

DHRS2

1-0112-003

chr14:
24354227-24354227

G

A

intergenic

De novo

-

-

Yuen2017 G

DHRS2

AU079605

chr14:
24162885-24162885

A

G

intergenic

De novo

-

-

Yuen2017 G

DHRS2

12795.p1

chr14:
24199208-24199208

C

T

intergenic

De novo

-

-

Turner2016 G

DHRS2

1-0354-003

chr14:
24167901-24167901

G

T

intergenic

De novo

-

-

Yuen2017 G

DHRS2

1-0354-003

chr14:
24167205-24167205

A

T

intergenic

De novo

-

-

Yuen2017 G

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 notes	View
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