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Results for "PIEZO1"

Variant Events: 12

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     2-1166-003chr16:
88855030-88855030
CTintergenicDe novo--Yuen2017 G
PIEZO1     1409001chr16:
88800398-88800398
GCexonicDe novononsynonymous SNVNM_001142864c.C2245Gp.Q749E0.0052.0E-4Satterstrom2020 E
PIEZO1     1-1000-003chr16:
88844727-88844727
GAintronicDe novo--Yuen2017 G
PIEZO1     SP0043623chr16:
88788455-88788455
GTexonicDe novononsynonymous SNVNM_001142864c.C4975Ap.L1659M21.4-Feliciano2019 E
PIEZO1     14011.p1chr16:
88787105-88787105
GCexonicDe novononsynonymous SNVNM_001142864c.C5720Gp.T1907R6.887-Krumm2015 E
PIEZO1     Kim2020:B3chr16:
88805034-88805059
GGCCGTGACTCGGAAACGAGCGGCCAGexonicDe novoframeshift deletionNM_001142864c.551_575delp.L184fs--Kim2020 E
PIEZO1     006-07-107598chr16:
88801323-88801323
AGexonicDe novononsynonymous SNVNM_001142864c.T1808Cp.V603A20.8-Satterstrom2020 E
PIEZO1     13071.p1chr16:
88792870-88792870
GAintronicDe novo-5.105E-5Krumm2015 E
PIEZO1     13309.p1chr16:
88786181-88786181
GTintronicDe novo--Satterstrom2020 E
PIEZO1     DEASD_1096_001chr16:
88798890-88798890
GAexonicDe novosynonymous SNVNM_001142864c.C2844Tp.R948R8.69-Satterstrom2020 E
PIEZO1     11089.p1chr16:
88816426-88816426
GAintronicDe novo--Turner2016 G
PIEZO1     AU4072303chr16:
88801310-88801310
GAexonicDe novosynonymous SNVNM_001142864c.C1821Tp.L607L11.2-Yuen2017 G
Source Variant Information

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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 notesView
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