Variant Results

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Results for "NSFL1C"

Variant Events: 9

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
NSFL1C	111292	chr20: 1447400-1447400	G	A	exonic			nonsynonymous SNV	NM_016143 NM_018839	c.C70T c.C70T	p.R24C p.R24C	26.3	5.0E-4	Woodbury-Smith2022 E
NSFL1C	1-1172-003	chr20: 1448589-1448589	A	C	upstream		De novo					-	-	Trost2022 G
NSFL1C	4-0062-003	chr20: 1434932-1434932	A	C	exonic		De novo	nonsynonymous SNV	NM_016143	c.T463G	p.Y155D	23.4	-	Trost2022 G
NSFL1C	SP0082297	chr20: 1447465-1447465	G	A	exonic		De novo	nonsynonymous SNV	NM_016143 NM_018839	c.C5T c.C5T	p.A2V p.A2V	36.0	-	Fu2022 E Trost2022 G Zhou2022 GE
NSFL1C	AU3779304	chr20: 1426898-1426898	G	C	intronic		De novo					-	-	Yuen2017 G
NSFL1C	AU2777302	chr20: 1379622-1379622	G	A	intergenic		De novo					-	-	Yuen2017 G
NSFL1C	AU003406	chr20: 1380789-1380789	T	A	intergenic		De novo					-	-	Yuen2017 G
NSFL1C	PN400322	chr20: 1433259-1433259	G	A	exonic		Unknown	nonsynonymous SNV	NM_018839 NM_016143	c.C571T c.C664T	p.L191F p.L222F	25.0	0.0037	Leblond2019 E
NSFL1C	2-1277-004	chr20: 1386907-1386907	T	A	intergenic		De novo					-	-	Yuen2017 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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