Variant Results

or

or

Results for "EYA2"

Variant Events: 20

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

EYA2

2-1364-003

chr20:
45779228-45779228

T

C

intronic

De novo

-

-

Yuen2017 G

EYA2

2-1245-003

chr20:
45625291-45625291

C

G

intronic

De novo

-

-

Yuen2017 G

EYA2

1-0210-004

chr20:
45830076-45830076

T

C

intergenic

De novo

-

-

Yuen2017 G

EYA2

1-0488-003

chr20:
45750010-45750010

G

A

intronic

De novo

-

-

Yuen2017 G

EYA2

1-0534-004

chr20:
45794119-45794119

C

T

intronic

De novo

-

-

Yuen2017 G

EYA2

2-1455-003

chr20:
45667223-45667237

CTGTGTGTGTGTGTG

CTGTGTGTGTGTG

intronic

De novo

-

-

Yuen2017 G

EYA2

1-0139-005

chr20:
45753386-45753386

T

G

intronic

De novo

-

-

Yuen2017 G

EYA2

2-1352-003

chr20:
45823968-45823968

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

EYA2

1-0299-003

chr20:
45672392-45672392

A

G

intronic

De novo

-

-

Yuen2017 G

EYA2

SP0062265

chr20:
45801464-45801464

C

T

exonic

De novo

nonsynonymous SNV

NM_005244
NM_172110

c.C1147T
c.C1147T

p.R383C
p.R383C

33.0

Antaki2022 GE
Fu2022 E

EYA2

2-0305-003

chr20:
45780638-45780639

GA

G

intronic

De novo

-

-

Yuen2017 G

EYA2

1-1004-003

chr20:
45701500-45701500

T

C

intronic

De novo

-

-

Yuen2017 G

EYA2

60-1015

chr20:
45644877-45644877

A

G

exonic

Inherited

nonsynonymous SNV

NM_005244
NM_172110

c.A356G
c.A356G

p.Y119C
p.Y119C

19.44

Patowary2019 E

EYA2

1-0972-003

chr20:
45729327-45729327

C

T

intronic

De novo

-

-

Yuen2017 G

EYA2

2-1089-004

chr20:
45712800-45712800

G

A

intronic

De novo

-

-

Yuen2017 G

EYA2

A12

chr20:
45780906-45780906

G

A

intronic

De novo

-

-

Wu2018 G

EYA2

2-1245-003

chr20:
45614847-45614847

C

T

intronic

De novo

-

-

Yuen2017 G

EYA2

AU1725306

chr20:
45645863-45645863

C

A

intronic

De novo

-

-

Yuen2017 G

EYA2

AU1725306

chr20:
45646168-45646168

C

T

intronic

De novo

-

-

Yuen2017 G

EYA2

AU4032307

chr20:
45574299-45574299

T

C

intronic

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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