or
or
Exact

Results for "PPP2R1A"

Variant Events: 13

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
PPP2R1A     AU3801301chr19:
52746660-52746660
ACintergenicDe novo--Yuen2017 G
PPP2R1A     Marques2022:170chr19:
52725358-52725358
TCexonicnonsynonymous SNVNM_014225c.T1525Cp.S509P21.0-Marques2022 ET
PPP2R1A     1-0354-006chr19:
52724696-52724696
CTintronicDe novo--Yuen2017 G
PPP2R1A     Marques2022:169chr19:
52716217-52716217
CTexonicnonsynonymous SNVNM_014225c.C661Tp.R221W27.2-Marques2022 ET
PPP2R1A     MT_82.3chr19:
52708961-52708961
CCAintronicDe novo--Trost2022 G
PPP2R1A     1-1010-003chr19:
52702520-52702520
CTintronicDe novo--Trost2022 G
PPP2R1A     2-1094-005chr19:
52752215-52752215
ATintergenicDe novo--Yuen2017 G
PPP2R1A     1-0757-003chr19:
52723495-52723495
GCexonicDe novosynonymous SNVNM_014225c.G1356Cp.V452V--Trost2022 G
Yuen2017 G
Zhou2022 GE
PPP2R1A     1-0978-003chr19:
52698455-52698455
CTintronicDe novo--Trost2022 G
Yuen2017 G
PPP2R1A     200675336_1082034492chr19:
52716007-52716007
AGexonicDe novononsynonymous SNVNM_014225c.A572Gp.E191G17.38-Fu2022 E
PPP2R1A     AU2756306chr19:
52693382-52693382
CTexonicDe novosynonymous SNVNM_014225c.C33Tp.Y11Y--Trost2022 G
Yuen2017 G
Zhou2022 GE
PPP2R1A     458-09-112046chr19:
52716215-52716215
TGexonicDe novononsynonymous SNVNM_014225c.T659Gp.V220G19.87-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PPP2R1A     2-1362-003chr19:
52759208-52759208
GAintergenicDe novo--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 notesView
More