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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     2-1430-005Achr7:
100849000-100849000
CTdownstreamDe novo--Trost2022 G
PLOD3     Lim2017:70421chr7:
100850973-100850973
CTexonicMosaicsynonymous SNVNM_001084c.G1821Ap.V607V--Lim2017 E
PLOD3     SP0053769chr7:
100852252-100852252
GAintronicDe novo-8.249E-6Fu2022 E
Trost2022 G
PLOD3     AU003405chr7:
100849465-100849465
GAUTR3De novo--Yuen2017 G
PLOD3     iHART1641chr7:
100855926-100855926
CCGexonicPaternalframeshift insertionNM_001084c.889dupCp.R297fs-2.0E-4Ruzzo2019 G
PLOD3     mAGRE1641chr7:
100855926-100855926
CCGexonicPaternalframeshift insertionNM_001084c.889dupCp.R297fs-2.0E-4Cirnigliaro2023 G
PLOD3     SP0062473chr7:
100853981-100853981
TTGGGAintronicDe novo--Fu2022 E
PLOD3     mAGRE4022chr7:
100855810-100855810
CTsplicingMaternalsplicing13.262.493E-5Cirnigliaro2023 G
PLOD3     mAGRE4872chr7:
100855126-100855126
CTsplicingMaternalsplicing14.72-Cirnigliaro2023 G
PLOD3     11782_p1chr7:
100856461-100856461
CTexonicDe novononsynonymous SNVNM_001084c.G704Ap.R235Q6.1473.374E-5Fu2022 E
PLOD3     13846.p1chr7:
100850973-100850973
CTexonicMosaic, De novosynonymous SNVNM_001084c.G1821Ap.V607V--Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Zhou2022 GE
PLOD3     11782.p1chr7:
100856461-100856461
CTexonicDe novononsynonymous SNVNM_001084c.G704Ap.R235Q6.1473.374E-5Iossifov2014 E
Kosmicki2017 E
Sanders2012 E
Wilfert2021 G
Zhou2022 GE
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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