Variant Results

or

or

Results for "PLA2G4B"

Variant Events: 14

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

2-1185-003

chr15:
42136714-42136714

A

G

exonic

De novo

nonsynonymous SNV

NM_001114633
NM_001198588
NM_005090

c.A925G
c.A1618G
c.A1618G

p.M309V
p.M540V
p.M540V

21.0

-

Trost2022 G
Trost2022 G
Yuen2017 G
Zhou2022 GE

PLA2G4B

iHART2334

chr15:
42139532-42139533

CA

C

splicing

Maternal

splicing

-

Ruzzo2019 G

PLA2G4B

mAGRE2116

chr15:
42135893-42135893

C

T

exonic

Paternal

stopgain

NM_001114633
NM_001198588
NM_005090

c.C763T
c.C1456T
c.C1456T

p.R255X
p.R486X
p.R486X

37.0

Cirnigliaro2023 G

PLA2G4B

AU4310301

chr15:
42137357-42137357

C

T

intronic

De novo

-

-

Trost2022 G
Trost2022 G
Yuen2017 G

PLA2G4B

SP0139829

chr15:
42133280-42133280

C

T

exonic

De novo

nonsynonymous SNV

NM_001114633
NM_001198588
NM_005090

c.C379T
c.C1072T
c.C1072T

p.R127C
p.R358C
p.R358C

12.82

Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE

PLA2G4B

MSSNG00378-003

chr15:
42140099-42140099

T

C

UTR3

De novo

-

-

Trost2022 G
Trost2022 G
Trost2022 G

PLA2G4B

3-0466-000A

chr15:
42133635-42133635

C

T

intronic

De novo

-

-

Trost2022 G
Trost2022 G

PLA2G4B

2-1430-005A

chr15:
42134352-42134352

C

T

intronic

De novo

-

Trost2022 G
Trost2022 G

PLA2G4B

PN400264

chr15:
42139604-42139604

G

T

exonic

Unknown

stopgain

NM_001114633
NM_005090

c.G2017T
c.G2710T

p.E673X
p.E904X

37.0

-

Leblond2019 E

PLA2G4B

mAGRE5313

chr15:
42138910-42138910

G

GC

exonic

Maternal

frameshift insertion

NM_001114633
NM_001198588
NM_005090

c.1825dupC
c.2518dupC
c.2518dupC

p.E608fs
p.E839fs
p.E839fs

-

Cirnigliaro2023 G

PLA2G4B

1-0744-003

chr15:
42138794-42138794

A

G

intronic

De novo

-

-

Trost2022 G
Trost2022 G
Yuen2017 G

PLA2G4B

iHART2116

chr15:
42135893-42135893

C

T

exonic

Paternal

stopgain

NM_001114633
NM_001198588
NM_005090

c.C763T
c.C1456T
c.C1456T

p.R255X
p.R486X
p.R486X

37.0

Ruzzo2019 G

PLA2G4B

SP0088316

chr15:
42137357-42137357

C

T

intronic

De novo

-

-

Fu2022 E

PLA2G4B

SP0028390

chr15:
42136040-42136040

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G
Trost2022 G

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 notes	View
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