Variant Results

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Results for "RCVRN"

Variant Events: 4

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
RCVRN	SP0029269	chr17: 9808162-9808162	G	A	exonic		De novo	synonymous SNV	NM_002903	c.C336T	p.D112D	-	1.648E-5	Fu2022 E Zhou2022 GE
RCVRN	SP0000854	chr17: 9808085-9808085	C	T	intronic		De novo					-	1.775E-5	Fu2022 E
RCVRN	SP0023559	chr17: 9804328-9804328	C	T	exonic			synonymous SNV	NM_002903	c.G471A	p.K157K	-	-	Zhou2022 GE
RCVRN	111311	chr17: 9808327-9808327	G	T	exonic			nonsynonymous SNV	NM_002903	c.C171A	p.F57L	22.0	-	Woodbury-Smith2022 E

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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