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Results for "PLA2G4B"

Variant Events: 6

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
PLA2G4B     2-1185-003chr15:
42136714-42136714
AGexonicDe novononsynonymous SNVNM_001114633
NM_001198588
NM_005090
c.A925G
c.A1618G
c.A1618G
p.M309V
p.M540V
p.M540V
21.0-Yuen2017 G
PLA2G4B     PN400264chr15:
42139604-42139604
GTexonicUnknownstopgainNM_001114633
NM_005090
c.G2017T
c.G2710T
p.E673X
p.E904X
37.0-Leblond2019 E
PLA2G4B     iHART2334chr15:
42139532-42139533
CACsplicingMaternalsplicing-7.0E-4Ruzzo2019 G
PLA2G4B     1-0744-003chr15:
42138794-42138794
AGintronicDe novo--Yuen2017 G
PLA2G4B     iHART2116chr15:
42135893-42135893
CTexonicPaternalstopgainNM_001114633
NM_001198588
NM_005090
c.C763T
c.C1456T
c.C1456T
p.R255X
p.R486X
p.R486X
37.02.0E-4Ruzzo2019 G
PLA2G4B     AU4310301chr15:
42137357-42137357
CTintronicDe 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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