Variant Results

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Results for "NACC1"

Variant Events: 8

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
NACC1	ASC_CA_05_A	chr19: 13248416-13248416	C	T	intronic		De novo					-	5.543E-5	Satterstrom2020 E Trost2022 G
NACC1	SP0060524	chr19: 13247219-13247219	G	C	exonic		De novo	nonsynonymous SNV	NM_052876	c.G1120C	p.G374R	18.39	-	Antaki2022 GE Fu2022 E Trost2022 G Zhou2022 GE
NACC1	AU023012	chr19: 13238531-13238531	A	G	intronic		De novo					-	-	Trost2022 G
NACC1	MSSNG00037-004A	chr19: 13242075-13242075	T	C	intronic		De novo					-	-	Trost2022 G
NACC1	13060.p1	chr19: 13246969-13246969	T	C	splicing		De novo	splicing				14.49	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
NACC1	AU2463301	chr19: 13229190-13229190	G	A	UTR5		De novo					-	-	Trost2022 G
NACC1	Mahjani2021:87	chr19: 13246275-13246275	G	A	exonic			nonsynonymous SNV	NM_052876	c.G254A	p.C85Y	22.0	-	Mahjani2021 E
NACC1	SSC06565	chr19: 13246969-13246969	T	C	splicing		De novo	splicing				14.49	-	Fu2022 E Lim2017 E Trost2022 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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