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Results for "PLOD2"
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
PLOD2
SSC03717
chr3:
145799604-145799604
T
C
exonic
De novo
nonsynonymous SNV
NM_000935
NM_182943
c.A1279G
c.A1279G
p.N427D
p.N427D
29.7
-
Fu2022
E
Lim2017
E
PLOD2
11540-1
chr3:
145878767-145878767
A
C
exonic
De novo
nonsynonymous SNV
NM_000935
NM_182943
c.T10G
c.T10G
p.C4G
p.C4G
8.828
-
Fu2022
E
PLOD2
11432.p1
chr3:
145786239-145786239
A
AT
downstream
Unknown
-
-
Werling2018
G
PLOD2
2-0198-005
chr3:
145787020-145787020
G
A
downstream
De novo
-
-
Yuen2017
G
PLOD2
AU2410301
chr3:
145834139-145834139
T
A
intronic
De novo
-
-
Yuen2017
G
PLOD2
1-0453-003
chr3:
145847180-145847180
G
C
intronic
De novo
-
-
Yuen2017
G
PLOD2
1-0153-005
chr3:
145787215-145787215
G
A
downstream
De novo
-
-
Yuen2017
G
PLOD2
AU4007301
chr3:
145901808-145901808
G
T
intergenic
De novo
-
-
Yuen2017
G
PLOD2
11978.p1
chr3:
145799604-145799604
T
C
exonic
De novo
nonsynonymous SNV
NM_000935
NM_182943
c.A1279G
c.A1279G
p.N427D
p.N427D
29.7
-
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Satterstrom2020
E
PLOD2
AU2089302
chr3:
145798587-145798587
A
T
intronic
De novo
-
-
Yuen2017
G
PLOD2
2-0198-004
chr3:
145787020-145787020
G
A
downstream
De novo
-
-
Yuen2017
G
PLOD2
2-1327-004
chr3:
145854148-145854148
A
C
intronic
De 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 notes
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