or
or
Exact

Results for "PPP1R13B"

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
PPP1R13B     2-1105-003chr14:
104233202-104233202
TAintronicDe novo--Yuen2016 G
Yuen2017 G
PPP1R13B     AU4197302chr14:
104256056-104256056
GCintronicDe novo--Yuen2017 G
PPP1R13B     12603.p1chr14:
104216291-104216292
ACAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
PPP1R13B     2-1303-003chr14:
104236600-104236600
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PPP1R13B     AU2787301chr14:
104204310-104204310
TAintronicDe novo--Yuen2017 G
PPP1R13B     1-0485-003chr14:
104302227-104302227
GCintronicDe novo--Yuen2017 G
PPP1R13B     AU4072303chr14:
104283536-104283536
CTintronicDe novo--Yuen2017 G
PPP1R13B     12175.p1chr14:
104282650-104282650
ATintronicDe novo--Turner2016 G
PPP1R13B     473-06-107043chr14:
104205289-104205289
GCexonicDe novosynonymous SNVNM_015316c.C2664Gp.P888P--Satterstrom2020 E
PPP1R13B     2-1644-003chr14:
104233843-104233843
CAintronicDe novo--Yuen2017 G
PPP1R13B     7-0058-003chr14:
104207305-104207305
GAintronicDe novo--Yuen2017 G
PPP1R13B     NDAR_INVPA860MYW_wes1chr14:
104205312-104205312
CTexonicDe novononsynonymous SNVNM_015316c.G2641Ap.G881R19.373.319E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
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