Variant Results

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Results for "NPDC1"

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
NPDC1	2K890	chr9: 139935100-139935100	C	T	intronic		De novo					-	6.426E-5	Satterstrom2020 E Trost2022 G
NPDC1	DEASD_1011_001	chr9: 139934558-139934558	C	T	intronic		De novo					-	7.333E-5	Fu2022 E Satterstrom2020 E Trost2022 G
NPDC1	ASC_CA_200_A	chr9: 139934525-139934526	TG	T	intronic		De novo					-	3.0E-4	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
NPDC1	11161_p1	chr9: 139934810-139934810	G	A	exonic		De novo	nonsynonymous SNV	NM_015392	c.C787T	p.R263W	14.7	-	Fu2022 E
NPDC1	11161.p1	chr9: 139934810-139934810	G	A	exonic		De novo	nonsynonymous SNV	NM_015392	c.C787T	p.R263W	14.7	-	Ji2016 E Krumm2015 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE

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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