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Results for "PIEZO2"

Variant Events: 47

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     12493.p1chr18:
10830565-10830565
AGintronicDe novo--Turner2016 G
PIEZO2     1-0336-004chr18:
10896541-10896541
TCintronicDe novo--Yuen2017 G
PIEZO2     12493.p1chr18:
10830567-10830567
AGintronicDe novo--Turner2016 G
PIEZO2     2-1142-003chr18:
10985423-10985423
CAintronicDe novo--Yuen2017 G
PIEZO2     505-09-112395chr18:
10789283-10789283
TAexonicDe novostopgainNM_022068c.A1963Tp.R655X34.0-Satterstrom2020 E
PIEZO2     12449.p1chr18:
11229402-11229402
TAintergenicDe novo--Turner2016 G
PIEZO2     2-1397-003chr18:
11166299-11166299
CTintergenicDe novo--Yuen2017 G
PIEZO2     AU4013303chr18:
10981669-10981669
GAintronicDe novo--Yuen2017 G
PIEZO2     AU3913302chr18:
11454333-11454338
ATTTTTATTTTintergenicDe novo--Yuen2017 G
PIEZO2     NP147chr18:
10740906-10740906
CTintronicDe novo--Satterstrom2020 E
PIEZO2     2-1237-003chr18:
10922061-10922061
CTintronicDe novo--Yuen2017 G
PIEZO2     2-1562-004chr18:
11326048-11326048
ACintergenicDe novo--Yuen2017 G
PIEZO2     AU3368302chr18:
11321001-11321001
CTintergenicDe novo--Yuen2017 G
PIEZO2     1-0244-003chr18:
11023960-11023960
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PIEZO2     2-1195-003chr18:
10778251-10778251
AGintronicDe novo--Yuen2016 G
Yuen2017 G
PIEZO2     2-1364-003chr18:
11375529-11375529
GAintergenicDe novo--Yuen2017 G
PIEZO2     AU4129303chr18:
10793727-10793727
GTintronicDe novo--Yuen2017 G
PIEZO2     AU1635302chr18:
10998924-10998924
CGintronicDe novo--Yuen2017 G
PIEZO2     2-0135-004chr18:
11134498-11134498
CTintronicDe novo--Yuen2017 G
PIEZO2     2-0289-003chr18:
10672847-10672847
TCexonicDe novononsynonymous SNVNM_022068c.A7846Gp.I2616V10.38-Yuen2017 G
PIEZO2     1-0201-005chr18:
10779818-10779818
TCintronicDe novo--Yuen2017 G
PIEZO2     AU1687303chr18:
10814862-10814862
CTintronicDe novo--Yuen2017 G
PIEZO2     2-1288-003chr18:
11406382-11406382
TCintergenicDe novo--Yuen2017 G
PIEZO2     13455.p1chr18:
10759883-10759883
CTexonicDe novononsynonymous SNVNM_022068c.G3400Ap.V1134I13.369.974E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PIEZO2     2-1194-003chr18:
11158066-11158066
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
PIEZO2     13665.p1chr18:
11066193-11066193
GAexonicDe novosynonymous SNVNM_022068c.C93Tp.S31S--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
PIEZO2     2-0070-003chr18:
11316704-11316704
TGintergenicDe novo--Yuen2017 G
PIEZO2     065-06-105547chr18:
10758131-10758131
AGexonicDe novosynonymous SNVNM_022068c.T3684Cp.Y1228Y--Satterstrom2020 E
PIEZO2     2-0018-004chr18:
11014413-11014413
CGintronicDe novo--Yuen2017 G
PIEZO2     2-1089-003chr18:
11037907-11037907
GAintronicDe novo--Yuen2017 G
PIEZO2     2-0319-003chr18:
11303566-11303566
GAintergenicDe novo--Yuen2017 G
PIEZO2     1-0394-003chr18:
11092082-11092082
GTintronicDe novo--Yuen2017 G
PIEZO2     60-2027chr18:
11197327-11197327
AGintergenicUnknown--Michaelson2012 G
PIEZO2     1-0526-003chr18:
11259202-11259202
GAintergenicDe novo--Yuen2017 G
PIEZO2     2-1456-004chr18:
10916619-10916619
CTintronicDe novo--Yuen2017 G
PIEZO2     A24chr18:
10903029-10903029
GAintronicDe novo--Wu2018 G
PIEZO2     7-0077-003chr18:
11071917-11071917
CTintronicDe novo--Yuen2017 G
PIEZO2     AU1860302chr18:
11236479-11236479
GCintergenicDe novo--Yuen2017 G
PIEZO2     1-0533-003chr18:
11257674-11257674
GAintergenicDe novo--Yuen2017 G
PIEZO2     2-0300-003chr18:
11037699-11037699
AGintronicDe novo--Yuen2017 G
PIEZO2     7-0001-003chr18:
10764295-10764295
CTintronicDe novo--Yuen2017 G
PIEZO2     SP0033071chr18:
10794787-10794787
CTexonicDe novononsynonymous SNVNM_022068c.G1741Ap.G581R10.5-Feliciano2019 E
PIEZO2     2-1205-003chr18:
10765417-10765417
AGintronicDe novo--Yuen2017 G
PIEZO2     1-0032-003chr18:
10903393-10903393
CTintronicDe novo--Yuen2017 G
PIEZO2     AU3787302chr18:
11199225-11199225
ACintergenicDe novo--Yuen2017 G
PIEZO2     3-0446-000chr18:
10992658-10992658
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PIEZO2     AU4191302chr18:
10941108-10941108
GAintronicDe novo--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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