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Results for "PPP2R1B"

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
PPP2R1B     SSC02682chr11:
111626054-111626054
GAexonicDe novononsynonymous SNVNM_001177563
NM_181700
NM_001177562
NM_002716
NM_181699
c.C427T
c.C616T
c.C808T
c.C808T
c.C808T
p.R143C
p.R206C
p.R270C
p.R270C
p.R270C
20.3-Lim2017 E
PPP2R1B     PN400249chr11:
111631737-111631739
AACAexonicUnknownframeshift deletionNM_181700
NM_001177562
NM_002716
NM_181699
c.151_152del
c.343_344del
c.343_344del
c.343_344del
p.V51fs
p.V115fs
p.V115fs
p.V115fs
-7.0E-4Leblond2019 E
PPP2R1B     iHART1312chr11:
111626081-111626081
GAexonicMaternalstopgainNM_001177563
NM_181700
NM_001177562
NM_002716
NM_181699
c.C400T
c.C589T
c.C781T
c.C781T
c.C781T
p.R134X
p.R197X
p.R261X
p.R261X
p.R261X
37.0-Ruzzo2019 G
PPP2R1B     PN400474chr11:
111631737-111631739
AACAexonicUnknownframeshift deletionNM_181700
NM_001177562
NM_002716
NM_181699
c.151_152del
c.343_344del
c.343_344del
c.343_344del
p.V51fs
p.V115fs
p.V115fs
p.V115fs
-7.0E-4Leblond2019 E
PPP2R1B     PN400231chr11:
111631737-111631739
AACAexonicUnknownframeshift deletionNM_181700
NM_001177562
NM_002716
NM_181699
c.151_152del
c.343_344del
c.343_344del
c.343_344del
p.V51fs
p.V115fs
p.V115fs
p.V115fs
-7.0E-4Leblond2019 E
PPP2R1B     11484.p1chr11:
111626054-111626054
GAexonicDe novononsynonymous SNVNM_001177563
NM_181700
NM_001177562
NM_002716
NM_181699
c.C427T
c.C616T
c.C808T
c.C808T
c.C808T
p.R143C
p.R206C
p.R270C
p.R270C
p.R270C
20.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
PPP2R1B     2-0033-003chr11:
111624537-111624537
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PPP2R1B     AC03-1004-01chr11:
111631749-111631749
CAexonicDe novosynonymous SNVNM_181700
NM_001177562
NM_002716
NM_181699
c.G141T
c.G333T
c.G333T
c.G333T
p.V47V
p.V111V
p.V111V
p.V111V
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PPP2R1B     PN400132chr11:
111631737-111631739
AACAexonicUnknownframeshift deletionNM_181700
NM_001177562
NM_002716
NM_181699
c.151_152del
c.343_344del
c.343_344del
c.343_344del
p.V51fs
p.V115fs
p.V115fs
p.V115fs
-7.0E-4Leblond2019 E
PPP2R1B     PN400568chr11:
111631737-111631739
AACAexonicUnknownframeshift deletionNM_181700
NM_001177562
NM_002716
NM_181699
c.151_152del
c.343_344del
c.343_344del
c.343_344del
p.V51fs
p.V115fs
p.V115fs
p.V115fs
-7.0E-4Leblond2019 E
PPP2R1B     PN400179chr11:
111631737-111631739
AACAexonicUnknownframeshift deletionNM_181700
NM_001177562
NM_002716
NM_181699
c.151_152del
c.343_344del
c.343_344del
c.343_344del
p.V51fs
p.V115fs
p.V115fs
p.V115fs
-7.0E-4Leblond2019 E
PPP2R1B     PN400543chr11:
111631737-111631739
AACAexonicUnknownframeshift deletionNM_181700
NM_001177562
NM_002716
NM_181699
c.151_152del
c.343_344del
c.343_344del
c.343_344del
p.V51fs
p.V115fs
p.V115fs
p.V115fs
-7.0E-4Leblond2019 E
PPP2R1B     PN400544chr11:
111631737-111631739
AACAexonicUnknownframeshift deletionNM_181700
NM_001177562
NM_002716
NM_181699
c.151_152del
c.343_344del
c.343_344del
c.343_344del
p.V51fs
p.V115fs
p.V115fs
p.V115fs
-7.0E-4Leblond2019 E
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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