Variant Results

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Results for "ERCC2"

Variant Events: 7

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
ERCC2	SP0055226	chr19: 45873470-45873470	A	T	exonic		De novo	nonsynonymous SNV	NM_000400	c.T26A	p.L9Q	14.16	-	Fu2022 E
ERCC2	1-0763-004	chr19: 45859498-45859498	G	A	intronic		De novo					-	-	Yuen2017 G
ERCC2	Hu2022:82	chr19: 45856520-45856520	C	T	exonic		Maternal	nonsynonymous SNV	NM_000400	c.G1738A	p.A580T	33.0	1.659E-5	Hu2022 T
ERCC2	AU031004	chr19: 45881600-45881600	T	A	intergenic		De novo					-	-	Yuen2017 G
ERCC2	Hu2022:82	chr19: 45868096-45868100	TGAGT	T	exonic		Paternal	frameshift deletion	NM_001130867 NM_000400	c.518_521del c.590_593del	p.Y173fs p.Y197fs	-	-	Hu2022 T
ERCC2	iHART2145	chr19: 45868311-45868311	G	A	exonic		Maternal	stopgain	NM_001130867 NM_000400	c.C394T c.C466T	p.R132X p.R156X	38.0	1.665E-5	Ruzzo2019 G
ERCC2	iHART2671	chr19: 45855465-45855466	AC	A	splicing		Paternal	splicing				-	-	Ruzzo2019 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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