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Results for "PLA2G6"

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
PLA2G6     AU3716301chr22:
38562374-38562374
GAintronicDe novo--Yuen2017 G
PLA2G6     CC1074_202chr22:
38511690-38511690
TCsplicingDe novosplicing15.31-Fu2022 E
PLA2G6     2-1251-003chr22:
38596746-38596746
CTintergenicDe novo--Yuen2017 G
PLA2G6     SP0040514 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
Trost2022 G
PLA2G6     MSSNG00357-003chr22:
38560055-38560055
GAintronicDe novo--Trost2022 G
PLA2G6     4-0064-003chr22:
38543258-38543258
TCintronicDe novo--Trost2022 G
PLA2G6     SP0128256chr22:
38508635-38508635
GAintronicDe novo-7.442E-5Fu2022 E
PLA2G6     3-0819-000chr22:
38530091-38530091
TAintronicDe novo--Trost2022 G
PLA2G6     SP0074180chr22:
38522455-38522455
TGexonicDe novononsynonymous SNVNM_001004426
NM_001199562
NM_003560
c.A1188C
c.A1188C
c.A1350C
p.Q396H
p.Q396H
p.E450D
8.517-Fu2022 E
Trost2022 G
Zhou2022 GE
PLA2G6     G01-GEA-110-HIchr22:
38524366-38524366
CTexonicDe novononsynonymous SNVNM_003560c.G1258Ap.G420R11.071.659E-5Lim2017 E
PLA2G6     Hu2022:47chr22:
38528924-38528924
CAexonicUnknownnonsynonymous SNVNM_001004426
NM_001199562
NM_003560
c.G991T
c.G991T
c.G991T
p.D331Y
p.D331Y
p.D331Y
25.94.752E-5Hu2022 T
PLA2G6     DEASD_0029_001chr22:
38541546-38541561
CTGCAGGACCTCAGTGCexonicDe novononframeshift deletionNM_001004426
NM_001199562
NM_003560
c.309_323del
c.309_323del
c.309_323del
p.103_108del
p.103_108del
p.103_108del
--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PLA2G6     Hu2022:47chr22:
38516880-38516880
CTexonicUnknownnonsynonymous SNVNM_001004426
NM_001199562
NM_003560
c.G1466A
c.G1466A
c.G1628A
p.R489H
p.R489H
p.R543H
23.13.309E-5Hu2022 T
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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