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Results for "COL5A3"

Variant Events: 8

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
COL5A3     11506.p1chr19:
10092741-10092741
CTexonicMosaicsynonymous SNVNM_015719c.G2460Ap.S820S-1.654E-5Krupp2017 E
COL5A3     AU2162302chr19:
10086923-10086923
TCintronicDe novo--Yuen2017 G
COL5A3     09C80351chr19:
10084504-10084504
GAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
COL5A3     12581.p1chr19:
10088224-10088224
CGintronicDe novo-1.888E-5Satterstrom2020 E
COL5A3     12219.p1chr19:
10091481-10091481
CTsplicingDe novosplicing20.5-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
COL5A3     Cukier2014:7590chr19:
10085062-10085062
CTexonicUnknownnonsynonymous SNVNM_015719c.G3365Ap.R1122H18.480.0428Cukier2014 E
COL5A3     1-0010-003chr19:
10073276-10073276
CTintronicDe novo--Yuen2017 G
COL5A3     2-1511-003chr19:
10118621-10118634
TTCTCTCTCTCTCTTTCTCTCTCTCTintronicDe 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 notesView
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