Variant Results

or

Results for "PLOD3"

Variant Events: 12

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

PLOD3

Lim2017:70421

chr7:
100850973-100850973

C

T

exonic

Mosaic

synonymous SNV

NM_001084

c.G1821A

p.V607V

-

Lim2017 E

PLOD3

SP0053769

chr7:
100852252-100852252

G

A

intronic

De novo

-

8.249E-6

Fu2022 E
Trost2022 G

PLOD3

AU003405

chr7:
100849465-100849465

G

A

UTR3

De novo

-

Yuen2017 G

PLOD3

iHART1641

chr7:
100855926-100855926

C

CG

exonic

Paternal

frameshift insertion

NM_001084

c.889dupC

p.R297fs

-

2.0E-4

Ruzzo2019 G

PLOD3

SP0062473

chr7:
100853981-100853981

T

TGGGA

intronic

De novo

-

Fu2022 E

PLOD3

mAGRE4872

chr7:
100855126-100855126

C

T

splicing

Maternal

splicing

14.72

-

Cirnigliaro2023 G

PLOD3

11782_p1

chr7:
100856461-100856461

C

T

exonic

De novo

nonsynonymous SNV

NM_001084

c.G704A

p.R235Q

6.147

3.374E-5

Fu2022 E

PLOD3

2-1430-005A

chr7:
100849000-100849000

C

T

downstream

De novo

-

Trost2022 G

PLOD3

mAGRE1641

chr7:
100855926-100855926

C

CG

exonic

Paternal

frameshift insertion

NM_001084

c.889dupC

p.R297fs

-

2.0E-4

Cirnigliaro2023 G

PLOD3

mAGRE4022

chr7:
100855810-100855810

C

T

splicing

Maternal

splicing

13.26

2.493E-5

Cirnigliaro2023 G

PLOD3

13846.p1

chr7:
100850973-100850973

C

T

exonic

Mosaic, De novo

synonymous SNV

NM_001084

c.G1821A

p.V607V

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Zhou2022 GE

PLOD3

11782.p1

chr7:
100856461-100856461

C

T

exonic

De novo

nonsynonymous SNV

NM_001084

c.G704A

p.R235Q

6.147

3.374E-5

Iossifov2014 E
Kosmicki2017 E
Sanders2012 E
Wilfert2021 G
Zhou2022 GE

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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