Variant Results

or

Results for "USH2A"

Variant Events: 117

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
Trost2022 G

USH2A

2-1066-004

chr1:
216418105-216418105

G

T

intronic

De novo

-

Trost2022 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

-

Trost2022 G
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

2-1306-003

chr1:
216350942-216350942

G

GGAGC

intronic

De novo

-

Trost2022 G
Yuen2017 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
Trost2022 G
Zhou2022 GE

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

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

AU4426303

chr1:
216101160-216101160

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

USH2A

1-0405-003

chr1:
216205978-216205978

C

T

intronic

De novo

-

Trost2022 G
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

12600_p1

chr1:
216011431-216011431

T

C

exonic

De novo

synonymous SNV

NM_206933

c.A9273G

p.T3091T

-

Fu2022 E

USH2A

2-1386-003

chr1:
216098596-216098596

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
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
Trost2022 G
Zhou2022 GE

USH2A

13171.p1

chr1:
215810853-215810853

T

C

intronic

De novo

-

Turner2016 G

USH2A

MCD-018-3

chr1:
215933087-215933087

G

T

exonic

Paternal

nonsynonymous SNV

NM_206933

c.C11146A

p.Q3716K

8.342

8.241E-6

Tuncay2023 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

AU3861303

chr1:
215968678-215968678

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

USH2A

5-0025-004

chr1:
215941421-215941421

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

USH2A

2-0214-003

chr1:
216224103-216224103

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

USH2A

7-0199-003

chr1:
215876887-215876887

C

G

intronic

De novo

-

Trost2022 G

USH2A

1-1160-003

chr1:
215866675-215866675

G

A

intronic

De novo

-

Trost2022 G

USH2A

2-1750-003

chr1:
215889170-215889170

T

G

intronic

De novo

-

Trost2022 G

USH2A

AU046506

chr1:
216270520-216270520

C

T

exonic

De novo

nonsynonymous SNV

NM_206933

c.G4663A

p.G1555S

24.4

-

Trost2022 G
Zhou2022 GE

USH2A

5-5237-005

chr1:
215877329-215877329

T

C

intronic

De novo

-

Trost2022 G

USH2A

2-1605-003

chr1:
215919489-215919489

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

USH2A

3-0531-000

chr1:
215800995-215800995

G

A

intronic

De novo

-

Trost2022 G

USH2A

REACH000089

chr1:
215800823-215800823

C

T

intronic

De novo

-

Trost2022 G

USH2A

1-1148-003

chr1:
215861766-215861766

C

A

intronic

De novo

-

Trost2022 G

USH2A

SP0253577

chr1:
215848435-215848435

T

C

exonic

De novo

nonsynonymous SNV

NM_206933

c.A12818G

p.Y4273C

1.626

3.3E-5

Trost2022 G

USH2A

4-0007-003

chr1:
216011528-216011528

T

C

intronic

De novo

-

Trost2022 G

USH2A

2-1341-004

chr1:
215998518-215998518

C

CA

intronic

De novo

-

Trost2022 G

USH2A

1-0264-006

chr1:
216057709-216057709

T

C

intronic

De novo

-

Trost2022 G

USH2A

AU2288301

chr1:
216041745-216041745

G

A

intronic

De novo

-

Trost2022 G

USH2A

SP0068785

chr1:
215953165-215953166

CT

C

intronic

De novo

-

0.0021

Trost2022 G

USH2A

3-0312-000

chr1:
215916811-215916811

T

C

intronic

De novo

-

Trost2022 G

USH2A

REACH000319

chr1:
215985205-215985205

C

T

intronic

De novo

-

Trost2022 G

USH2A

1-1136-003

chr1:
215973629-215973629

C

T

intronic

De novo

-

Trost2022 G

USH2A

2-1329-003

chr1:
215951779-215951779

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

USH2A

7-0240-003

chr1:
216124141-216124141

C

T

intronic

De novo

-

Trost2022 G

USH2A

3-0707-000

chr1:
216117297-216117297

A

G

intronic

De novo

-

Trost2022 G

USH2A

AU2410302

chr1:
216147085-216147085

G

A

intronic

De novo

-

Trost2022 G

USH2A

1-0611-005

chr1:
216126706-216126706

A

G

intronic

De novo

-

Trost2022 G

USH2A

1-0329-003

chr1:
215858118-215858118

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

USH2A

AU2320301

chr1:
216069628-216069628

A

C

intronic

De novo

-

Trost2022 G

USH2A

MSSNG00083-003

chr1:
216064380-216064383

AAAC

A

intronic

De novo

-

Trost2022 G

USH2A

MSSNG00140-003

chr1:
216114560-216114560

T

C

intronic

De novo

-

Trost2022 G

USH2A

4-0004-003

chr1:
216090889-216090889

T

C

intronic

De novo

-

Trost2022 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

1-1123-003

chr1:
216298996-216298996

T

G

intronic

De novo

-

Trost2022 G

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

2-0068-003

chr1:
216272112-216272113

TG

ATCACCATTT

intronic

De novo

-

Trost2022 G

USH2A

REACH000689

chr1:
216320332-216320332

A

T

intronic

De novo

-

Trost2022 G

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

MSSNG00098-003

chr1:
216319492-216319492

A

G

intronic

De novo

-

Trost2022 G

USH2A

5-0085-003

chr1:
216217753-216217758

GTAATA

G

intronic

De novo

-

Trost2022 G

USH2A

2-1790-003

chr1:
216161519-216161519

A

T

intronic

De novo

-

Trost2022 G

USH2A

SP0149124

chr1:
216246300-216246300

G

A

exonic

De novo

stopgain

NM_206933

c.C5788T

p.R1930X

50.0

-

Trost2022 G

USH2A

SP0143639

chr1:
216221981-216221981

T

C

exonic

De novo

nonsynonymous SNV

NM_206933

c.A6058G

p.T2020A

17.41

-

Trost2022 G

USH2A

MT_45.3

chr1:
216411669-216411669

G

A

intronic

De novo

-

Trost2022 G

USH2A

1-0695-004

chr1:
216409651-216409651

C

T

intronic

De novo

-

Trost2022 G

USH2A

2-1764-003

chr1:
216485032-216485032

T

C

intronic

De novo

-

Trost2022 G

USH2A

MSSNG00039-004

chr1:
216469710-216469710

C

T

intronic

De novo

-

Trost2022 G

USH2A

1-0804-003

chr1:
216568271-216568271

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

USH2A

MSSNG00255-004

chr1:
216380856-216380856

G

A

intronic

De novo

-

Trost2022 G

USH2A

MT_161.3

chr1:
216321955-216321955

A

G

intronic

De novo

-

Trost2022 G

USH2A

AU2212301

chr1:
216382063-216382063

G

A

intronic

De novo

-

Trost2022 G

USH2A

1-0052-004

chr1:
216492382-216492382

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

USH2A

MSSNG00255-005

chr1:
216380856-216380856

G

A

intronic

De novo

-

Trost2022 G

USH2A

2-1382-003

chr1:
215861604-215861604

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

USH2A

2-1306-004

chr1:
216350942-216350942

G

GGAGC

intronic

De novo

-

Yuen2017 G

USH2A

2-1109-004

chr1:
216510305-216510305

T

C

intronic

De novo

-

Trost2022 G

USH2A

1-0339-003

chr1:
215823845-215823845

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

USH2A

SSC07073

chr1:
216495331-216495331

G

A

intronic

De novo

-

Trost2022 G

USH2A

AU059003

chr1:
216573299-216573299

A

C

intronic

De novo

-

Trost2022 G

USH2A

2-1295-003

chr1:
216314149-216314149

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

USH2A

4-0023-004

chr1:
216571419-216571419

C

A

intronic

De novo

-

Trost2022 G

USH2A

mAGRE1365

chr1:
216498677-216498679

AAT

A

exonic

Paternal

frameshift deletion

NM_007123
NM_206933

c.1111_1112del
c.1111_1112del

p.I371fs
p.I371fs

-

Cirnigliaro2023 G

USH2A

mAGRE5386

chr1:
216419926-216419926

C

G

splicing

Paternal

splicing

26.4

-

Cirnigliaro2023 G

USH2A

mAGRE5385

chr1:
216419926-216419926

C

G

splicing

Paternal

splicing

26.4

-

Cirnigliaro2023 G

USH2A

mAGRE2091

chr1:
215955527-215955527

A

AAT

exonic

Maternal

frameshift insertion

NM_206933

c.10596_10597insAT

p.Y3533fs

-

Cirnigliaro2023 G

USH2A

mAGRE5139

chr1:
215807800-215807800

C

G

splicing

Maternal

splicing

18.58

1.648E-5

Cirnigliaro2023 G

USH2A

1-0551-003

chr1:
216031326-216031326

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

USH2A

1-0675-003

chr1:
215897178-215897178

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

USH2A

1-0347-003

chr1:
216492872-216492872

C

A

intronic

De novo

-

Trost2022 G
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
Trost2022 G
Wilfert2021 G
Zhou2022 GE

USH2A

AU3646301

chr1:
216315906-216315906

G

A

intronic

De novo

-

Trost2022 G
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
Trost2022 G
Wilfert2021 G
Zhou2022 GE

USH2A

13130.p1

chr1:
216495331-216495331

G

A

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

USH2A

7-0133-003

chr1:
216103707-216103726

TAACAAAGACAGTTTCAGAC

T

intronic

De novo

-

Trost2022 G
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

-

Trost2022 G
Yuen2017 G

USH2A

AU2137304

chr1:
216380781-216380781

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

USH2A

AU072904

chr1:
216175271-216175271

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

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
Trost2022 G
Zhou2022 GE

USH2A

1-0257-003

chr1:
216625513-216625513

C

T

intergenic

De novo

-

Yuen2017 G

USH2A

2-1427-003

chr1:
216189649-216189649

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

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

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

MCD-018-3

chr1:
215901460-215901460

C

T

exonic

Maternal

nonsynonymous SNV

NM_206933

c.G11978A

p.G3993D

32.0

8.27E-6

Tuncay2023 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

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

USH2A

AU3760301

chr1:
215995239-215995239

G

A

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

2-0144-004

chr1:
216225859-216225859

T

C

intronic

De novo

-

Trost2022 G
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

2-0273-003

chr1:
215962962-215962962

A

T

intronic

De novo

-

Trost2022 G
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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