Variant Results

or

Results for "USH2A"

Variant Events: 65

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

USH2A

09C82560

chr1:
216074296-216074296

T

C

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

USH2A

2-1066-004

chr1:
216418105-216418105

G

T

intronic

De novo

-

Yuen2017 G

USH2A

2-1382-003

chr1:
215861604-215861604

G

A

intronic

De novo

-

Yuen2017 G

USH2A

2-1306-004

chr1:
216350942-216350942

G

GGAGC

intronic

De novo

-

Yuen2017 G

USH2A

1-0339-003

chr1:
215823845-215823845

G

A

intronic

De novo

-

Yuen2017 G

USH2A

2-1295-003

chr1:
216314149-216314149

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

USH2A

AU065304

chr1:
216351596-216351596

T

C

intronic

De novo

-

Yuen2017 G

USH2A

AU4122301

chr1:
216388814-216388814

G

C

intronic

De novo

-

Yuen2017 G

USH2A

1-0551-003

chr1:
216031326-216031326

T

G

intronic

De novo

-

Yuen2017 G

USH2A

1-0675-003

chr1:
215897178-215897178

C

T

intronic

De novo

-

Yuen2017 G

USH2A

Chen2021:22

chr1:
216348729-216348729

G

C

exonic

Paternal

nonsynonymous SNV

NM_007123
NM_206933

c.C4492G
c.C4492G

p.P1498A
p.P1498A

21.3

-

Chen2021 GET

USH2A

1-0347-003

chr1:
216492872-216492872

C

A

intronic

De novo

-

Yuen2017 G

USH2A

2-1306-003

chr1:
216350942-216350942

G

GGAGC

intronic

De novo

-

Yuen2017 G

USH2A

12600.p1

chr1:
216011431-216011431

T

C

exonic

De novo

synonymous SNV

NM_206933

c.A9273G

p.T3091T

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

USH2A

AU3646301

chr1:
216315906-216315906

G

A

intronic

De novo

-

Yuen2017 G

USH2A

11897.p1

chr1:
216062348-216062348

A

C

exonic

De novo

nonsynonymous SNV

NM_206933

c.T7643G

p.M2548R

13.06

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

USH2A

09C87038

chr1:
216363573-216363573

A

G

exonic

De novo

nonsynonymous SNV

NM_007123
NM_206933

c.T4388C
c.T4388C

p.L1463S
p.L1463S

12.03

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E

USH2A

Chen2021:22

chr1:
216062375-216062375

G

A

exonic

Paternal

nonsynonymous SNV

NM_206933

c.C7616T

p.P2539L

17.59

9.179E-5

Chen2021 GET

USH2A

13130.p1

chr1:
216495331-216495331

G

A

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

USH2A

Chen2021:22

chr1:
215953193-215953193

G

A

exonic

Maternal

nonsynonymous SNV

NM_206933

c.C10931T

p.T3644M

16.88

7.419E-5

Chen2021 GET

USH2A

7-0133-003

chr1:
216103707-216103726

TAACAAAGACAGTTTCAGAC

T

intronic

De novo

-

Yuen2017 G

USH2A

13641.p1

chr1:
216073502-216073502

G

T

exonic

De novo

stopgain

NM_206933

c.C7509A

p.Y2503X

51.0

-

Ji2016 E

USH2A

5-0088-003

chr1:
216064897-216064897

C

A

intronic

De novo

-

Yuen2017 G

USH2A

AU2137304

chr1:
216380781-216380781

A

G

intronic

De novo

-

Yuen2017 G

USH2A

AU4426303

chr1:
216101160-216101160

C

T

intronic

De novo

-

Yuen2017 G

USH2A

AU072904

chr1:
216175271-216175271

T

A

intronic

De novo

-

Yuen2017 G

USH2A

1-0405-003

chr1:
216205978-216205978

C

T

intronic

De novo

-

Yuen2017 G

USH2A

2-1323-003

chr1:
216666293-216666293

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

USH2A

80001100706

chr1:
215953269-215953269

C

T

exonic

De novo

nonsynonymous SNV

NM_206933

c.G10855A

p.V3619I

7.657

6.591E-5

Fu2022 E

USH2A

AU3632301

chr1:
216624125-216624125

G

A

intergenic

De novo

-

Yuen2017 G

USH2A

11897_p1

chr1:
216062348-216062348

A

C

exonic

De novo

nonsynonymous SNV

NM_206933

c.T7643G

p.M2548R

13.06

-

Fu2022 E

USH2A

Lim2017:35873

chr1:
215963541-215963541

T

G

exonic

De novo

nonsynonymous SNV

NM_206933

c.A10042C

p.I3348L

12.12

-

Lim2017 E

USH2A

344-05-104641

chr1:
216591942-216591942

G

A

exonic

De novo

nonsynonymous SNV

NM_007123
NM_206933

c.C565T
c.C565T

p.R189C
p.R189C

24.2

2.477E-5

Fu2022 E
Satterstrom2020 E

USH2A

12600_p1

chr1:
216011431-216011431

T

C

exonic

De novo

synonymous SNV

NM_206933

c.A9273G

p.T3091T

-

Fu2022 E

USH2A

1-0257-003

chr1:
216625513-216625513

C

T

intergenic

De novo

-

Yuen2017 G

USH2A

2-1386-003

chr1:
216098596-216098596

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

USH2A

2-1427-003

chr1:
216189649-216189649

C

A

intronic

De novo

-

Yuen2017 G

USH2A

SP0098469

chr1:
216496886-216496886

A

AG

exonic

De novo

frameshift insertion

NM_007123
NM_206933

c.1479dupC
c.1479dupC

p.Y494fs
p.Y494fs

-

Fu2022 E

USH2A

1-0244-003

chr1:
215949010-215949010

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

USH2A

1-0244-003

chr1:
215949045-215949045

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

USH2A

13171.p1

chr1:
215810853-215810853

T

C

intronic

De novo

-

Turner2016 G

USH2A

11572.p1

chr1:
215963541-215963541

T

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_206933

c.A10042C

p.I3348L

12.12

-

Dou2017 E
Ji2016 E
Turner2016 G

USH2A

1-0209-003

chr1:
216158424-216158424

G

A

intronic

De novo

-

Yuen2017 G

USH2A

AU3861303

chr1:
215971483-215971483

A

T

intronic

De novo

-

Yuen2017 G

USH2A

AU4378301

chr1:
216371765-216371765

T

C

exonic

De novo

nonsynonymous SNV

NM_007123
NM_206933

c.A3973G
c.A3973G

p.T1325A
p.T1325A

9.479

-

Yuen2017 G

USH2A

AU3861303

chr1:
215968678-215968678

G

T

intronic

De novo

-

Yuen2017 G

USH2A

AU3760301

chr1:
215995239-215995239

G

A

intronic

De novo

-

Yuen2017 G

USH2A

5-0025-004

chr1:
215941421-215941421

G

A

intronic

De novo

-

Yuen2017 G

USH2A

2-0214-003

chr1:
216224103-216224103

C

T

intronic

De novo

-

Yuen2017 G

USH2A

iHART2091

chr1:
215955527-215955527

A

AAT

exonic

Maternal

frameshift insertion

NM_206933

c.10596_10597insAT

p.Y3533fs

-

Ruzzo2019 G

USH2A

09C96107

chr1:
215848539-215848539

A

C

exonic

stopgain

NM_206933

c.T12714G

p.Y4238X

55.0

-

Doan2019 E
Doan2019 E

USH2A

1-0265-004

chr1:
216208508-216208510

TAG

T

intronic

De novo

-

Yuen2017 G

USH2A

2-1605-003

chr1:
215919489-215919489

C

T

intronic

De novo

-

Yuen2017 G

USH2A

2-0144-004

chr1:
216225859-216225859

T

C

intronic

De novo

-

Yuen2017 G

USH2A

iHART2274

chr1:
216420436-216420437

TC

T

exonic

Maternal

frameshift deletion

NM_007123
NM_206933

c.2299delG
c.2299delG

p.E767fs
p.E767fs

-

8.0E-4

Ruzzo2019 G

USH2A

iHART2272

chr1:
216420436-216420437

TC

T

exonic

Maternal

frameshift deletion

NM_007123
NM_206933

c.2299delG
c.2299delG

p.E767fs
p.E767fs

-

8.0E-4

Ruzzo2019 G

USH2A

09C96107

chr1:
216219874-216219874

C

T

exonic

stopgain

NM_206933

c.G6224A

p.W2075X

50.0

-

Doan2019 E
Doan2019 E

USH2A

2-1329-003

chr1:
215951779-215951779

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

USH2A

1-0329-003

chr1:
215858118-215858118

C

G

intronic

De novo

-

Yuen2017 G

USH2A

B0671

chr1:
216062375-216062375

G

A

exonic

Maternal

nonsynonymous SNV

NM_206933

c.C7616T

p.P2539L

17.59

9.179E-5

Xiong2019 ET

USH2A

B0671

chr1:
215953193-215953193

G

A

exonic

Maternal

nonsynonymous SNV

NM_206933

c.C10931T

p.T3644M

16.88

7.419E-5

Xiong2019 ET

USH2A

B0671

chr1:
216348729-216348729

G

C

exonic

Paternal

nonsynonymous SNV

NM_007123
NM_206933

c.C4492G
c.C4492G

p.P1498A
p.P1498A

21.3

-

Xiong2019 ET

USH2A

1-0804-003

chr1:
216568271-216568271

A

G

intronic

De novo

-

Yuen2017 G

USH2A

2-0273-003

chr1:
215962962-215962962

A

T

intronic

De novo

-

Yuen2017 G

USH2A

1-0052-004

chr1:
216492382-216492382

A

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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