Variant Results

or

Results for "PIEZO2"

Variant Events: 92

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

PIEZO2

SP0097208

chr18:
10672732-10672732

T

C

exonic

De novo

nonsynonymous SNV

NM_022068

c.A7961G

p.N2654S

7.099

8.237E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

PIEZO2

SP0114604

chr18:
10691245-10691245

C

T

exonic

De novo

nonsynonymous SNV

NM_022068

c.G6988A

p.V2330I

11.75

2.473E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

PIEZO2

SP0057795

chr18:
10731399-10731399

A

G

intronic

De novo

-

Fu2022 E

PIEZO2

SP0066915

chr18:
10741163-10741163

C

G

intronic

De novo

-

Fu2022 E

PIEZO2

SP0027725

chr18:
10702083-10702083

G

C

exonic

De novo

nonsynonymous SNV

NM_022068

c.C6006G

p.H2002Q

2.643

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PIEZO2

SP0125550

chr18:
10704607-10704607

C

A

exonic

De novo

nonsynonymous SNV

NM_022068

c.G5704T

p.V1902L

4.729

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PIEZO2

SP0034318

chr18:
10699009-10699009

T

A

exonic

De novo

nonsynonymous SNV

NM_022068

c.A6269T

p.Q2090L

11.4

-

Fu2022 E
Zhou2022 GE

PIEZO2

2-1397-003

chr18:
11166299-11166299

C

T

intergenic

De novo

-

Yuen2017 G

PIEZO2

AU4013303

chr18:
10981669-10981669

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIEZO2

3-0099-001A

chr18:
10675735-10675735

C

T

intronic

De novo

-

Trost2022 G

PIEZO2

AU2237301

chr18:
10688037-10688037

G

A

intronic

De novo

-

Trost2022 G

PIEZO2

AU3913302

chr18:
11454333-11454338

ATTTTT

ATTTT

intergenic

De novo

-

Yuen2017 G

PIEZO2

SP0091633

chr18:
11148664-11148664

C

A

UTR5

De novo

-

Fu2022 E

PIEZO2

2-1562-004

chr18:
11326048-11326048

A

C

intergenic

De novo

-

Yuen2017 G

PIEZO2

3-0095-000

chr18:
10834043-10834043

A

G

intronic

De novo

-

Trost2022 G

PIEZO2

AU3368302

chr18:
11321001-11321001

C

T

intergenic

De novo

-

Yuen2017 G

PIEZO2

7-0227-003

chr18:
10849632-10849632

T

TGA

intronic

De novo

-

Trost2022 G

PIEZO2

MSSNG00251-003

chr18:
10768212-10768212

C

G

intronic

De novo

-

Trost2022 G

PIEZO2

MSSNG00056-003

chr18:
10783155-10783155

A

T

intronic

De novo

-

Trost2022 G

PIEZO2

E3F6Y_01

chr18:
10725933-10725933

T

A

intronic

De novo

-

Trost2022 G

PIEZO2

1-0347-003

chr18:
10744071-10744072

GG

C

intronic

De novo

-

Trost2022 G

PIEZO2

Wang2023:228

chr18:
10773452-10773452

C

T

exonic

De novo

nonsynonymous SNV

NM_022068

c.G2668A

p.G890R

14.17

-

Wang2023 E

PIEZO2

MSSNG00347-003

chr18:
10713224-10713224

T

C

intronic

De novo

-

Trost2022 G

PIEZO2

MSSNG00407-003

chr18:
10715062-10715062

G

C

intronic

De novo

-

Trost2022 G

PIEZO2

AU1635302

chr18:
10998924-10998924

C

G

intronic

De novo

-

Yuen2017 G

PIEZO2

5-5171-003

chr18:
10974155-10974155

C

T

intronic

De novo

-

Trost2022 G

PIEZO2

2-0159-003

chr18:
10987246-10987246

C

T

intronic

De novo

-

Trost2022 G

PIEZO2

2-0135-004

chr18:
11134498-11134498

C

T

intronic

De novo

-

Yuen2017 G

PIEZO2

2-0289-003

chr18:
10672847-10672847

T

C

exonic

De novo

nonsynonymous SNV

NM_022068

c.A7846G

p.I2616V

10.38

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

PIEZO2

1-1133-003

chr18:
10962216-10962216

A

T

intronic

De novo

-

Trost2022 G

PIEZO2

1-0201-005

chr18:
10779818-10779818

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIEZO2

AU1687303

chr18:
10814862-10814862

C

T

intronic

De novo

-

Yuen2017 G

PIEZO2

3-0294-000

chr18:
10970498-10970498

T

C

intronic

De novo

-

Trost2022 G

PIEZO2

5-0134-003

chr18:
10866508-10866508

A

C

intronic

De novo

-

Trost2022 G

PIEZO2

13455.p1

chr18:
10759883-10759883

C

T

exonic

De novo

nonsynonymous SNV

NM_022068

c.G3400A

p.V1134I

13.36

9.974E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PIEZO2

MSSNG00111-004

chr18:
10912855-10912855

C

T

intronic

De novo

-

Trost2022 G

PIEZO2

13665.p1

chr18:
11066193-11066193

G

A

exonic

De novo

synonymous SNV

NM_022068

c.C93T

p.S31S

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PIEZO2

2-0070-003

chr18:
11316704-11316704

T

G

intergenic

De novo

-

Yuen2017 G

PIEZO2

MSSNG00072-003

chr18:
10858868-10858868

G

A

intronic

De novo

-

Trost2022 G

PIEZO2

5-0134-003

chr18:
10866504-10866505

CA

TG

intronic

De novo

-

Trost2022 G

PIEZO2

2-0018-004

chr18:
11014413-11014413

C

G

intronic

De novo

-

Yuen2017 G

PIEZO2

7-0497-003

chr18:
11076037-11076037

G

A

intronic

De novo

-

Trost2022 G

PIEZO2

7-0449-003

chr18:
11084680-11084680

T

C

intronic

De novo

-

Trost2022 G

PIEZO2

1-0337-003

chr18:
11067553-11067553

C

G

intronic

De novo

-

Trost2022 G

PIEZO2

3-0309-000

chr18:
11068226-11068226

C

T

intronic

De novo

-

Trost2022 G

PIEZO2

7-0395-003

chr18:
11007697-11007697

A

G

intronic

De novo

-

Trost2022 G

PIEZO2

REACH000609

chr18:
11015082-11015082

G

A

intronic

De novo

-

Trost2022 G

PIEZO2

2-0319-003

chr18:
11303566-11303566

G

A

intergenic

De novo

-

Yuen2017 G

PIEZO2

MSSNG00420-003

chr18:
10999518-10999518

A

G

intronic

De novo

-

Trost2022 G

PIEZO2

4-0090-003

chr18:
11003907-11003908

TA

T

intronic

De novo

-

Trost2022 G

PIEZO2

60-2027

chr18:
11197327-11197327

A

G

intergenic

Unknown

-

Michaelson2012 G

PIEZO2

MSSNG00423-004

chr18:
11140987-11140987

A

G

intronic

De novo

-

Trost2022 G

PIEZO2

1-0526-003

chr18:
11259202-11259202

G

A

intergenic

De novo

-

Yuen2017 G

PIEZO2

4-0014-003

chr18:
11129341-11129341

G

A

intronic

De novo

-

Trost2022 G

PIEZO2

MT_151.4

chr18:
11140893-11140893

G

A

intronic

De novo

-

Trost2022 G

PIEZO2

2-1350-003

chr18:
11108678-11108682

TTTCA

G

intronic

De novo

-

Trost2022 G

PIEZO2

2-1764-004

chr18:
11115904-11115904

T

C

intronic

De novo

-

Trost2022 G

PIEZO2

A24

chr18:
10903029-10903029

G

A

intronic

De novo

-

Wu2018 G

PIEZO2

1-0533-003

chr18:
11257674-11257674

G

A

intergenic

De novo

-

Yuen2017 G

PIEZO2

2-0300-003

chr18:
11037699-11037699

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIEZO2

AU3787302

chr18:
11199225-11199225

A

C

intergenic

De novo

-

Yuen2017 G

PIEZO2

3-0446-000

chr18:
10992658-10992658

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PIEZO2

12493.p1

chr18:
10830565-10830565

A

G

intronic

De novo

-

Turner2016 G

PIEZO2

1-0336-004

chr18:
10896541-10896541

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIEZO2

12493.p1

chr18:
10830567-10830567

A

G

intronic

De novo

-

Turner2016 G

PIEZO2

2-1142-003

chr18:
10985423-10985423

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIEZO2

AU2577301

chr18:
10763104-10763104

C

T

intronic

De novo

-

Trost2022 G
Zhou2022 GE

PIEZO2

505-09-112395

chr18:
10789283-10789283

T

A

exonic

De novo

stopgain

NM_022068

c.A1963T

p.R655X

34.0

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PIEZO2

12449.p1

chr18:
11229402-11229402

T

A

intergenic

De novo

-

Turner2016 G

PIEZO2

NP147

chr18:
10740906-10740906

C

T

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G

PIEZO2

13455_p1

chr18:
10759883-10759883

C

T

exonic

De novo

nonsynonymous SNV

NM_022068

c.G3400A

p.V1134I

13.36

9.974E-5

Fu2022 E

PIEZO2

2-1237-003

chr18:
10922061-10922061

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIEZO2

CC1277_202

chr18:
10758120-10758120

A

T

exonic

De novo

nonsynonymous SNV

NM_022068

c.T3695A

p.L1232Q

13.84

-

Fu2022 E

PIEZO2

REACH000323

chr18:
10794787-10794787

C

T

exonic

De novo

nonsynonymous SNV

NM_022068

c.G1741A

p.G581R

10.5

-

Trost2022 G
Zhou2022 GE

PIEZO2

13665_p1

chr18:
11066193-11066193

G

A

exonic

De novo

synonymous SNV

NM_022068

c.C93T

p.S31S

-

Fu2022 E

PIEZO2

1-0244-003

chr18:
11023960-11023960

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PIEZO2

2-1195-003

chr18:
10778251-10778251

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PIEZO2

2-1364-003

chr18:
11375529-11375529

G

A

intergenic

De novo

-

Yuen2017 G

PIEZO2

AU4129303

chr18:
10793727-10793727

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIEZO2

2-1288-003

chr18:
11406382-11406382

T

C

intergenic

De novo

-

Yuen2017 G

PIEZO2

2-1194-003

chr18:
11158066-11158066

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PIEZO2

065-06-105547

chr18:
10758131-10758131

A

G

exonic

De novo

synonymous SNV

NM_022068

c.T3684C

p.Y1228Y

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PIEZO2

2-1089-003

chr18:
11037907-11037907

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIEZO2

1-0394-003

chr18:
11092082-11092082

G

T

intronic

De novo

-

Yuen2017 G

PIEZO2

2-1456-004

chr18:
10916619-10916619

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIEZO2

7-0077-003

chr18:
11071917-11071917

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIEZO2

AU1860302

chr18:
11236479-11236479

G

C

intergenic

De novo

-

Yuen2017 G

PIEZO2

7-0001-003

chr18:
10764295-10764295

C

T

intronic

De novo

-

Yuen2017 G

PIEZO2

SP0033071

chr18:
10794787-10794787

C

T

exonic

De novo

nonsynonymous SNV

NM_022068

c.G1741A

p.G581R

10.5

-

Feliciano2019 E
Fu2022 E
Zhou2022 GE

PIEZO2

2-1205-003

chr18:
10765417-10765417

A

G

intronic

De novo

-

Yuen2017 G

PIEZO2

1-0032-003

chr18:
10903393-10903393

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIEZO2

AU4191302

chr18:
10941108-10941108

G

A

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
	More