Variant Results

or

or

Results for "PIEZO1"

Variant Events: 21

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

PIEZO1

CC1262_201

chr16:
88792793-88792793

G

A

exonic

De novo

synonymous SNV

NM_001142864

c.C3867T

p.S1289S

6.152

-

Fu2022 E

PIEZO1

SP0043623

chr16:
88788455-88788455

G

T

exonic

De novo

nonsynonymous SNV

NM_001142864

c.C4975A

p.L1659M

21.4

-

Feliciano2019 E
Fu2022 E

PIEZO1

SP0149915

chr16:
88783627-88783627

G

A

intronic

De novo

-

-

Fu2022 E

PIEZO1

14011.p1

chr16:
88787105-88787105

G

C

exonic

De novo

nonsynonymous SNV

NM_001142864

c.C5720G

p.T1907R

6.887

-

Krumm2015 E

PIEZO1

006-07-107598

chr16:
88801323-88801323

A

G

exonic

De novo

nonsynonymous SNV

NM_001142864

c.T1808C

p.V603A

20.8

-

Fu2022 E
Satterstrom2020 E

PIEZO1

13071.p1

chr16:
88792870-88792870

G

A

intronic

De novo

-

Krumm2015 E

PIEZO1

13309.p1

chr16:
88786181-88786181

G

T

intronic

De novo

-

-

Satterstrom2020 E

PIEZO1

11089.p1

chr16:
88816426-88816426

G

A

intronic

De novo

-

-

Turner2016 G

PIEZO1

2-1166-003

chr16:
88855030-88855030

C

T

intergenic

De novo

-

-

Yuen2017 G

PIEZO1

1409001

chr16:
88800398-88800398

G

C

exonic

De novo

nonsynonymous SNV

NM_001142864

c.C2245G

p.Q749E

0.005

Satterstrom2020 E

PIEZO1

SP0047725

chr16:
88793502-88793502

G

C

exonic

De novo

nonsynonymous SNV

NM_001142864

c.C3400G

p.R1134G

2.483

-

Fu2022 E

PIEZO1

1-1000-003

chr16:
88844727-88844727

G

A

intronic

De novo

-

-

Yuen2017 G

PIEZO1

SP0060755

chr16:
88804194-88804194

G

A

exonic

De novo

nonsynonymous SNV

NM_001142864

c.C1049T

p.A350V

12.35

Fu2022 E

PIEZO1

SP0032493

chr16:
88802608-88802608

C

T

exonic

De novo

nonsynonymous SNV

NM_001142864

c.G1505A

p.R502H

11.68

-

Fu2022 E

PIEZO1

Kim2020:B3

chr16:
88805034-88805059

GGCCGTGACTCGGAAACGAGCGGCCA

G

exonic

De novo

frameshift deletion

NM_001142864

c.551_575del

p.L184fs

-

-

Kim2020 E

PIEZO1

SP0130488

chr16:
88788171-88788171

C

T

intronic

De novo

-

Fu2022 E

PIEZO1

SP0142938

chr16:
88786466-88786466

C

T

intronic

De novo

-

-

Fu2022 E

PIEZO1

SP0001493

chr16:
88802612-88802612

G

A

exonic

De novo

synonymous SNV

NM_001142864

c.C1501T

p.L501L

10.19

-

Fu2022 E

PIEZO1

DEASD_1096_001

chr16:
88798890-88798890

G

A

exonic

De novo

synonymous SNV

NM_001142864

c.C2844T

p.R948R

8.69

-

Fu2022 E
Satterstrom2020 E

PIEZO1

SP0004698

chr16:
88787967-88787967

G

A

exonic

De novo

synonymous SNV

NM_001142864

c.C5382T

p.F1794F

10.42

-

Fu2022 E

PIEZO1

AU4072303

chr16:
88801310-88801310

G

A

exonic

De novo

synonymous SNV

NM_001142864

c.C1821T

p.L607L

11.2

-

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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