Variant Results

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Results for "NVL"

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
NVL	2-1235-004	chr1: 224418565-224418565	G	A	intronic		De novo					-	-	Yuen2017 G
NVL	2-1567-003	chr1: 224445713-224445713	T	TTGA	intronic		De novo					-	-	Yuen2017 G
NVL	AU2162302	chr1: 224440146-224440146	C	T	intronic		De novo					-	-	Yuen2017 G
NVL	AU4372309	chr1: 224444041-224444041	C	T	intronic		De novo					-	-	Yuen2017 G
NVL	156-3925	chr1: 224491525-224491525	G	A	exonic		Inherited	nonsynonymous SNV	NM_001243146 NM_001243147 NM_206840 NM_002533	c.C212T c.C587T c.C542T c.C860T	p.P71L p.P196L p.P181L p.P287L	26.8	2.497E-5	Patowary2019 E
NVL	AU2975302	chr1: 224542763-224542766	TCCC	TCC	intergenic		De novo					-	-	Yuen2017 G
NVL	13556.p1	chr1: 224477160-224477160	A	T	intronic		De novo					-	-	Satterstrom2020 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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