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Results for "PPIP5K2"

Variant Events: 10

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
PPIP5K2     AU2023302chr5:
102459294-102459294
CTintronicDe novo--Yuen2017 G
PPIP5K2     DEASD_0177_001chr5:
102469367-102469367
GTintronicDe novo--Satterstrom2020 E
PPIP5K2     12785.p1chr5:
102486980-102486980
GCexonicDe novononsynonymous SNVNM_015216
NM_001276277
c.G930C
c.G930C
p.L310F
p.L310F
16.74-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
PPIP5K2     03HI2710Achr5:
102537217-102537217
ATintronicDe novo-9.575E-5Satterstrom2020 E
PPIP5K2     2-0310-004chr5:
102490118-102490118
GAintronicDe novo--Yuen2017 G
PPIP5K2     SSC05971chr5:
102486980-102486980
GCexonicDe novononsynonymous SNVNM_015216
NM_001276277
c.G930C
c.G930C
p.L310F
p.L310F
16.74-Lim2017 E
PPIP5K2     2-0304-004chr5:
102547757-102547757
TGintergenicDe novo--Yuen2017 G
PPIP5K2     iHART1536chr5:
102518947-102518948
CTCexonicUnknownframeshift deletionNM_015216
NM_001276277
c.2936delT
c.2936delT
p.L979fs
p.L979fs
--Ruzzo2019 G
PPIP5K2     Cukier2014:37674chr5:
102537298-102537298
CTexonicUnknownnonsynonymous SNVNM_015216
NM_001276277
c.C3632T
c.C3695T
p.T1211M
p.T1232M
10.140.0377Cukier2014 E
PPIP5K2     AU072505chr5:
102578340-102578340
CTintergenicDe novo--Yuen2017 G
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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