Variant Results

or

Results for "PLD4"

Variant Events: 11

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

PLD4

DEASD_0423_001

chr14:
105398680-105398680

G

T

exonic

De novo

nonsynonymous SNV

NM_001308174
NM_138790

c.G1330T
c.G1309T

p.A444S
p.A437S

7.462

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PLD4

7-0168-003

chr14:
105396868-105396868

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD4

SSC05274

chr14:
105395251-105395251

C

G

exonic

De novo

nonsynonymous SNV

NM_001308174
NM_138790

c.C471G
c.C450G

p.N157K
p.N150K

10.66

-

Fu2022 E
Trost2022 G

PLD4

12414.p1

chr14:
105395251-105395251

C

G

exonic

De novo

nonsynonymous SNV

NM_001308174
NM_138790

c.C471G
c.C450G

p.N157K
p.N150K

10.66

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

PLD4

SP0093984

chr14:
105398202-105398202

A

ACG

exonic

De novo

frameshift insertion

NM_001308174
NM_138790

c.1057_1058insCG
c.1036_1037insCG

p.T353fs
p.T346fs

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PLD4

AU2129303

chr14:
105398402-105398404

TGC

T

exonic

Maternal

frameshift deletion

NM_001308174
NM_138790

c.1134_1135del
c.1113_1114del

p.V378fs
p.V371fs

-

1.035E-5

Cirnigliaro2023 G

PLD4

mAGRE3047

chr14:
105398084-105398084

G

A

splicing

Paternal

splicing

12.45

5.0E-4

Cirnigliaro2023 G

PLD4

mAGRE5296

chr14:
105396326-105396326

C

T

exonic

Paternal

stopgain

NM_001308174
NM_138790

c.C622T
c.C601T

p.R208X
p.R201X

34.0

6.692E-5

Cirnigliaro2023 G

PLD4

mAGRE5295

chr14:
105396326-105396326

C

T

exonic

Paternal

stopgain

NM_001308174
NM_138790

c.C622T
c.C601T

p.R208X
p.R201X

34.0

6.692E-5

Cirnigliaro2023 G

PLD4

mAGRE6060

chr14:
105393490-105393492

CTT

C

exonic

Paternal

frameshift deletion

NM_001308174
NM_138790

c.35_36del
c.14_15del

p.L12fs
p.L5fs

-

Cirnigliaro2023 G

PLD4

iHART3047

chr14:
105398084-105398084

G

A

splicing

Paternal

splicing

12.45

5.0E-4

Ruzzo2019 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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