Variant Results

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Results for "NTAN1"

Variant Events: 3

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
NTAN1	133350	chr16: 15135488-15135488	C	A	exonic			nonsynonymous SNV	NM_001270767 NM_001270766 NM_173474	c.G164T c.G164T c.G479T	p.C55F p.C55F p.C160F	20.2	8.236E-6	Woodbury-Smith2022 E
NTAN1	SP0020343	chr16: 15141966-15141967	TA	T	intronic		De novo					-	0.0134	Trost2022 G Trost2022 G
NTAN1	74-0081	chr16: 15141730-15141730	C	A	exonic		Inherited	nonsynonymous SNV	NM_173474	c.G232T	p.V78L	12.97	-	Patowary2019 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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