Variant Results

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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.p1	chr19: 10092741-10092741	C	T	exonic		Mosaic	synonymous SNV	NM_015719	c.G2460A	p.S820S	-	1.654E-5	Krupp2017 E
COL5A3	AU2162302	chr19: 10086923-10086923	T	C	intronic		De novo					-	-	Yuen2017 G
COL5A3	09C80351	chr19: 10084504-10084504	G	A	intronic		De novo					-	-	Kosmicki2017 E Satterstrom2020 E
COL5A3	12581.p1	chr19: 10088224-10088224	C	G	intronic		De novo					-	1.888E-5	Satterstrom2020 E
COL5A3	12219.p1	chr19: 10091481-10091481	C	T	splicing		De novo	splicing				20.5	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Wilfert2021 G
COL5A3	Cukier2014:7590	chr19: 10085062-10085062	C	T	exonic		Unknown	nonsynonymous SNV	NM_015719	c.G3365A	p.R1122H	18.48	0.0428	Cukier2014 E
COL5A3	1-0010-003	chr19: 10073276-10073276	C	T	intronic		De novo					-	-	Yuen2017 G
COL5A3	2-1511-003	chr19: 10118621-10118634	TTCTCTCTCTCTCT	TTCTCTCTCTCT	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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.
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