Variant Results

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Results for "CD276"

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
CD276	12449.p1	chr15: 74024070-74024070	G	C	intergenic		De novo					-	-	Turner2016 G
CD276	Li2017:20758	chr15: 73995249-73995251	CCT	C	exonic		Unknown	frameshift deletion	NM_001024736	c.556_557del	p.L186fs	-	1.66E-5	Li2017 T
CD276	1-0206-003	chr15: 73983335-73983335	A	T	intronic		De novo					-	-	Yuen2017 G
CD276	Li2017:23062	chr15: 73996752-73996752	C	G	exonic		Unknown	stopgain	NM_025240 NM_001024736	c.C654G c.C1308G	p.Y218X p.Y436X	27.0	-	Li2017 T
CD276	AU3911302	chr15: 73977127-73977127	G	A	intronic		De novo					-	-	Yuen2017 G
CD276	Li2017:17615	chr15: 74003481-74003481	C	T	exonic		Unknown	stopgain	NM_025240 NM_001024736	c.C898T c.C1552T	p.Q300X p.Q518X	34.0	-	Li2017 T
CD276	iHART3132	chr15: 74000785-74000789	TCAAA	T	exonic		Maternal	frameshift deletion	NM_025240 NM_001024736	c.822_825del c.1476_1479del	p.I274fs p.I492fs	-	5.16E-5	Ruzzo2019 G
CD276	iHART1629	chr15: 73995249-73995251	CCT	C	exonic		Paternal	frameshift deletion	NM_001024736	c.556_557del	p.L186fs	-	1.66E-5	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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