or
or
Exact

Results for "PDE4DIP"

Variant Events: 8

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
PDE4DIP     13160.p1chr1:
144912131-144912132
TGTexonicDe novoframeshift deletionNM_001002811
NM_001002812
NM_001198834
NM_014644
NM_001198832
c.2632delC
c.2143delC
c.2143delC
c.2143delC
c.2341delC
p.Q878fs
p.Q715fs
p.Q715fs
p.Q715fs
p.Q781fs
--Ji2016 E
PDE4DIP     3-0432-000chr1:
144952082-144952082
TAUTR3De novo-0.0189Yuen2017 G
PDE4DIP     AU2109302chr1:
144852435-144852435
GAexonicDe novosynonymous SNVNM_001198834c.C7008Tp.C2336C-0.0049Yuen2017 G
PDE4DIP     11031.p1chr1:
145075903-145075903
CTUTR5Mosaic-0.374Dou2017 E
PDE4DIP     12939.p1chr1:
144856852-144856852
CTexonicDe novosynonymous SNVNM_001198834
NM_014644
NM_001198832
c.G6633A
c.G6633A
c.G6315A
p.A2211A
p.A2211A
p.A2105A
5.6370.0148Iossifov2012 E
PDE4DIP     CC935.201chr1:
144879548-144879548
TCexonicDe novononsynonymous SNVNM_001198834
NM_014644
NM_001198832
c.A3902G
c.A3902G
c.A3770G
p.N1301S
p.N1301S
p.N1257S
9.62-Lim2017 E
PDE4DIP     13518.p1chr1:
144930883-144930883
CGexonicMosaic Mat.nonsynonymous SNVNM_001002811c.G826Cp.D276H10.7-Dou2017 E
PDE4DIP     SP0036741chr1:
144946624-144946624
CTsplicingMosaic, De novosplicing11.09-Feliciano2019 E
Feliciano2019 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