Variant Results

or

or

Results for "ANKRD20A4"

Variant Events: 24

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

ANKRD20A4

2-1487-003

chr9:
69496695-69496695

A

G

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

1-0367-003

chr9:
69453383-69453383

A

T

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

AU4028302

chr9:
69427834-69427834

A

G

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

AU076808

chr9:
69519451-69519451

G

T

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

1-0906-003

chr9:
69509000-69509000

C

G

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

AU4015303

chr9:
69433671-69433671

G

A

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

AU060004

chr9:
69478867-69478867

C

A

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

AU4015303

chr9:
69458632-69458632

G

A

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

AU4153301

chr9:
69516090-69516090

C

T

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

12285.p1

chr9:
69409974-69409974

G

A

splicing

De novo

splicing

13.26

-

Turner2017 G

ANKRD20A4

AU060004

chr9:
69480614-69480614

T

G

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

1-0582-003

chr9:
69559766-69559766

T

G

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

AU3811301

chr9:
69429911-69429912

GT

G

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

1-0372-003

chr9:
69513041-69513041

C

T

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

2-1735-003

chr9:
69458731-69458731

A

G

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

AU031403

chr9:
69495493-69495493

G

A

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

1-0490-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2017 G
Yuen2017 G

ANKRD20A4

1-0918-003

chr9:
69514812-69514814

CAT

C

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

1-0579-003

chr9:
69558725-69558725

T

C

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

AU3506303

chr9:
69533289-69533289

G

A

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

1-0121-003

chr9:
69409270-69409274

GGTTT

G

intronic

De novo

-

-

Yuen2017 G

ANKRD20A4

2-1509-003

chr9:
69383068-69383068

C

G

intronic

De novo

-

-

Yuen2017 G

ANKRD20A4

AU1988301

chr9:
69518509-69518509

C

T

intergenic

De novo

-

-

Yuen2017 G

ANKRD20A4

DEASD_3019_001

chr9:
69423967-69423967

G

T

exonic

De novo

stopgain

NM_001098805

c.G2263T

p.E755X

22.4

-

Fu2022 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 notes	View
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