Variant Results

or

Results for "AKR1C2"

Variant Events: 16

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

476-09-111962

chr10:
5042698-5042698

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

AKR1C2

13399.p1

chr10:
5032204-5032204

A

G

exonic

De novo

nonsynonymous SNV

NM_205845
NM_001354

c.T956C
c.T956C

p.F319S
p.F319S

10.63

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

AKR1C2

14122.p1

chr10:
5040898-5040898

G

A

exonic

De novo

synonymous SNV

NM_205845
NM_001354

c.C489T
c.C489T

p.I163I
p.I163I

-

8.239E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

AKR1C2

11214.p1

chr10:
5042775-5042775

G

T

exonic

De novo

nonsynonymous SNV

NM_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
Zhou2022 GE

AKR1C2

70376

chr10:
5032204-5032204

A

G

exonic

De novo

nonsynonymous SNV

NM_205845
NM_001354

c.T956C
c.T956C

p.F319S
p.F319S

10.63

-

Trost2022 G

AKR1C2

004-05-102519

chr10:
5042572-5042572

C

G

UTR3

De novo

-

Satterstrom2020 E
Trost2022 G

AKR1C2

SSC02800

chr10:
5042775-5042775

G

T

exonic

De novo

nonsynonymous SNV

NM_001135241
NM_205845
NM_001354

c.C336A
c.C336A
c.C336A

p.D112E
p.D112E
p.D112E

15.42

-

Fu2022 E
Lim2017 E
Trost2022 G

AKR1C2

AU2792301

chr10:
5049984-5049984

A

C

intronic

De novo

-

Yuen2017 G

AKR1C2

AU3605304

chr10:
5044811-5044811

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AKR1C2

SP0059446

chr10:
5042232-5042232

A

C

UTR3

De novo

-

Trost2022 G

AKR1C2

SJD_58.4

chr10:
5059151-5059151

G

A

intronic

De novo

-

Trost2022 G

AKR1C2

2-1364-003

chr10:
5087016-5087016

A

T

intergenic

De novo

-

Yuen2017 G

AKR1C2

1-0753-003

chr10:
5040651-5040651

A

G

intronic

De novo

-

Trost2022 G

AKR1C2

2-1364-003

chr10:
5083053-5083053

C

T

intergenic

De novo

-

Yuen2017 G

AKR1C2

SSC11008

chr10:
5040898-5040898

G

A

exonic

De novo

synonymous SNV

NM_205845
NM_001354

c.C489T
c.C489T

p.I163I
p.I163I

-

8.239E-5

Trost2022 G

AKR1C2

AU4250301

chr10:
5041589-5041589

G

C

intronic

De novo

-

Trost2022 G
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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