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Results for "PLOD2"

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
PLOD2     2-0198-005chr3:
145787020-145787020
GAdownstreamDe novo--Yuen2017 G
PLOD2     AU2410301chr3:
145834139-145834139
TAintronicDe novo--Yuen2017 G
PLOD2     1-0453-003chr3:
145847180-145847180
GCintronicDe novo--Yuen2017 G
PLOD2     1-0153-005chr3:
145787215-145787215
GAdownstreamDe novo--Yuen2017 G
PLOD2     AU4007301chr3:
145901808-145901808
GTintergenicDe novo--Yuen2017 G
PLOD2     11978.p1chr3:
145799604-145799604
TCexonicDe novononsynonymous SNVNM_000935
NM_182943
c.A1279G
c.A1279G
p.N427D
p.N427D
29.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
PLOD2     AU2089302chr3:
145798587-145798587
ATintronicDe novo--Yuen2017 G
PLOD2     2-0198-004chr3:
145787020-145787020
GAdownstreamDe novo--Yuen2017 G
PLOD2     2-1327-004chr3:
145854148-145854148
ACintronicDe novo--Yuen2017 G
PLOD2     SSC03717chr3:
145799604-145799604
TCexonicDe novononsynonymous SNVNM_000935
NM_182943
c.A1279G
c.A1279G
p.N427D
p.N427D
29.7-Lim2017 E
PLOD2     11432.p1chr3:
145786239-145786239
AATdownstreamUnknown--Werling2018 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 notesView
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