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Results for "PPP4R3A"

Variant Events: 11

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
PPP4R3A     14423.p1chr14:
91932755-91932755
CTintronicDe novo--Wilfert2021 G
PPP4R3A     DEASD_0303_001chr14:
91925214-91925214
CCTTsplicingDe novosplicing--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PPP4R3A     4-0096-003chr14:
91960945-91960945
GAintronicDe novo--Trost2022 G
PPP4R3A     SP0075477chr14:
91975917-91975917
CTexonicDe novosynonymous SNVNM_001284280
NM_001284281
c.G75A
c.G75A
p.G25G
p.G25G
--Fu2022 E
Trost2022 G
Zhou2022 GE
PPP4R3A     1-0568-003chr14:
92002206-92002206
TCintergenicDe novo--Yuen2017 G
PPP4R3A     2-1725-003chr14:
92010093-92010093
AGintergenicDe novo--Yuen2017 G
PPP4R3A     14152.p1chr14:
91948183-91948183
TGexonicMosaicnonsynonymous SNVNM_001284280c.A652Cp.M218L15.97-Dou2017 E
PPP4R3A     SP0246049chr14:
91925230-91925234
ATTATAintronicDe novo-3.25E-5Trost2022 G
PPP4R3A     AU4211304chr14:
91947431-91947431
CCTintronicDe novo--Trost2022 G
PPP4R3A     1-0329-004chr14:
92038090-92038090
ATintergenicDe novo--Yuen2017 G
PPP4R3A     AU0452303chr14:
91986291-91986291
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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