Variant Results

or

Results for "CDH23"

Variant Events: 32

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

CDH23

08C75913

chr10:
73548731-73548731

A

G

exonic

De novo

nonsynonymous SNV

NM_022124

c.A5855G

p.E1952G

19.71

-

Satterstrom2020 E

CDH23

1-0324-003

chr10:
73239966-73239966

T

C

intronic

De novo

-

Yuen2017 G

CDH23

7-0024-005

chr10:
73180178-73180178

G

GGTAATGGTGATA

intronic

De novo

-

Yuen2017 G

CDH23

1-0806-003

chr10:
73306839-73306839

C

G

intronic

De novo

-

Yuen2017 G

CDH23

14454.p1

chr10:
73548795-73548795

C

T

exonic

Mosaic

synonymous SNV

NM_022124

c.C5919T

p.P1973P

-

5.107E-5

Dou2017 E

CDH23

AU030104

chr10:
73246344-73246344

G

A

intronic

De novo

-

Yuen2017 G

CDH23

1-0595-005

chr10:
73331767-73331767

C

T

intronic

De novo

-

Yuen2017 G

CDH23

2-0149-005

chr10:
73282096-73282096

G

A

intronic

De novo

-

Yuen2017 G

CDH23

2-1355-004

chr10:
73202124-73202124

G

T

intronic

De novo

-

Yuen2017 G

CDH23

1-0332-003

chr10:
73436072-73436072

G

A

intronic

De novo

-

Yuen2017 G

CDH23

2-0309-005

chr10:
73161573-73161573

G

A

intronic

De novo

-

Yuen2017 G

CDH23

AU3729303

chr10:
73163937-73163937

A

G

intronic

De novo

-

Yuen2017 G

CDH23

2-1170-003

chr10:
73342082-73342082

C

T

intronic

De novo

-

Yuen2017 G

CDH23

2-1300-003

chr10:
73231042-73231042

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CDH23

1-0144-005

chr10:
73416606-73416606

G

A

intronic

De novo

-

Yuen2017 G

CDH23

AU4264302

chr10:
73367504-73367505

AC

A

intronic

De novo

-

Yuen2017 G

CDH23

7-0247-003

chr10:
73570732-73570732

G

A

intronic

De novo

-

Yuen2017 G

CDH23

AU4033303

chr10:
73184722-73184722

C

T

intronic

De novo

-

Yuen2017 G

CDH23

2-1269-003

chr10:
73297117-73297117

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CDH23

A25

chr10:
73190250-73190250

T

C

intronic

De novo

-

Wu2018 G

CDH23

7-0032-003

chr10:
73287026-73287026

C

T

intronic

De novo

-

Yuen2017 G

CDH23

Cukier2014:17122

chr10:
73537449-73537449

G

A

exonic

Unknown

nonsynonymous SNV

NM_022124

c.G4858A

p.V1620M

18.68

0.0227

Cukier2014 E

CDH23

5-0099-003

chr10:
73240610-73240610

A

G

intronic

De novo

-

Yuen2017 G

CDH23

AU046703

chr10:
73543357-73543357

A

G

intronic

De novo

-

Yuen2017 G

CDH23

AU030103

chr10:
73246344-73246344

G

A

intronic

De novo

-

Yuen2017 G

CDH23

DEASD_0439_001

chr10:
73464800-73464800

G

A

exonic

De novo

nonsynonymous SNV

NM_001171930
NM_001171931
NM_022124

c.G2866A
c.G2866A
c.G2866A

p.E956K
p.E956K
p.E956K

36.0

3.433E-5

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

CDH23

10C109080

chr10:
73491982-73491982

C

T

exonic

De novo

synonymous SNV

NM_001171930
NM_022124

c.C3954T
c.C3954T

p.Y1318Y
p.Y1318Y

-

3.425E-5

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

CDH23

AU1933301

chr10:
73450275-73450275

T

A

exonic

De novo

nonsynonymous SNV

NM_001171930
NM_001171931
NM_022124

c.T2110A
c.T2110A
c.T2110A

p.Y704N
p.Y704N
p.Y704N

20.2

-

Yuen2017 G

CDH23

2-1220-003

chr10:
73566755-73566755

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CDH23

2-1296-003

chr10:
73215771-73215771

C

T

intronic

De novo

-

Yuen2017 G

CDH23

AU3122301

chr10:
73289225-73289225

T

C

intronic

De novo

-

Yuen2017 G

CDH23

AU4310301

chr10:
73332303-73332303

C

T

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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