Variant Results

or

or

Results for "CYP20A1"

Variant Events: 21

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

CYP20A1

REACH000242

chr2:
204122688-204122688

A

T

intronic

De novo

-

-

Trost2022 G

CYP20A1

5-0042-003

chr2:
204122695-204122695

G

T

intronic

De novo

-

-

Trost2022 G

CYP20A1

5-5165-003

chr2:
204122679-204122679

C

A

intronic

De novo

-

-

Trost2022 G

CYP20A1

5141_201_child

chr2:
204161598-204161598

A

G

exonic

De novo

synonymous SNV

NM_177538

c.A1356G

p.E452E

-

-

Neale2012 E

CYP20A1

5-5030-003

chr2:
204122682-204122682

T

A

intronic

De novo

-

-

Trost2022 G

CYP20A1

MSSNG00002-003

chr2:
204122673-204122673

C

A

intronic

De novo

-

-

Trost2022 G

CYP20A1

AU2287301

chr2:
204122677-204122677

T

C

intronic

De novo

-

-

Trost2022 G

CYP20A1

REACH000414

chr2:
204122663-204122663

T

A

intronic

De novo

-

-

Trost2022 G

CYP20A1

1-0681-003

chr2:
204122665-204122665

C

A

intronic

De novo

-

-

Trost2022 G

CYP20A1

4-0090-003

chr2:
204122712-204122712

A

G

intronic

De novo

-

-

Trost2022 G

CYP20A1

MSSNG00394-003

chr2:
204139091-204139091

T

C

intronic

De novo

-

-

Trost2022 G

CYP20A1

MT_70.3

chr2:
204122695-204122695

G

T

intronic

De novo

-

-

Trost2022 G

CYP20A1

1-0007-003

chr2:
204122699-204122699

A

G

intronic

De novo

-

-

Trost2022 G

CYP20A1

AU3912303

chr2:
204107526-204107526

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CYP20A1

1-0751-003

chr2:
204181721-204181721

A

G

intergenic

De novo

-

-

Yuen2017 G

CYP20A1

1-0173-004

chr2:
204150103-204150103

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CYP20A1

2-1644-004

chr2:
204130607-204130607

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CYP20A1

SJD_69.3

chr2:
204116309-204116309

A

G

intronic

De novo

-

-

Trost2022 G

CYP20A1

10C117841

chr2:
204161598-204161598

A

G

exonic

De novo

synonymous SNV

NM_177538

c.A1356G

p.E452E

-

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CYP20A1

A17

chr2:
204107935-204107935

C

T

intronic

De novo

-

-

Wu2018 G

CYP20A1

2-1591-003

chr2:
204188297-204188297

G

A

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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