Variant Results

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Results for "NDUFS2"

Variant Events: 5

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
NDUFS2	PN400282	chr1: 161183191-161183191	C	G	exonic		Unknown	nonsynonymous SNV	NM_001166159 NM_004550	c.C1138G c.C1138G	p.H380D p.H380D	27.5	6.0E-4	Leblond2019 E
NDUFS2	PN400503	chr1: 161183191-161183191	C	G	exonic		Unknown	nonsynonymous SNV	NM_001166159 NM_004550	c.C1138G c.C1138G	p.H380D p.H380D	27.5	6.0E-4	Leblond2019 E
NDUFS2	SP0028591	chr1: 161184094-161184094	T	TGTGTGTG	UTR3		De novo					-	-	Fu2022 E
NDUFS2	111311	chr1: 161179959-161179959	G	A	exonic			nonsynonymous SNV	NM_001166159 NM_004550	c.G761A c.G761A	p.R254Q p.R254Q	29.0	1.65E-5	Woodbury-Smith2022 E
NDUFS2	PN400249	chr1: 161183191-161183191	C	G	exonic		Unknown	nonsynonymous SNV	NM_001166159 NM_004550	c.C1138G c.C1138G	p.H380D p.H380D	27.5	6.0E-4	Leblond2019 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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