Variant Results

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Results for "NCR1"

Variant Events: 4

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
NCR1	SSC11302	chr19: 55418040-55418040	G	A	exonic		De novo	nonsynonymous SNV	NM_001145457 NM_001145458 NM_004829	c.G230A c.G230A c.G230A	p.R77Q p.R77Q p.R77Q	10.54	1.651E-5	Fu2022 E Trost2022 G
NCR1	1000482995765539-C	chr19: 55420738-55420738	G	A	exonic		De novo	nonsynonymous SNV	NM_001242356 NM_001242357 NM_001145457 NM_001145458 NM_004829	c.G205A c.G205A c.G490A c.G490A c.G490A	p.V69I p.V69I p.V164I p.V164I p.V164I	3.137	1.648E-5	Fu2022 E
NCR1	SP0038418	chr19: 55424012-55424012	T	G	intronic		De novo					-	1.0E-4	Fu2022 E
NCR1	14300.p1	chr19: 55418040-55418040	G	A	exonic		De novo	nonsynonymous SNV	NM_001145457 NM_001145458 NM_004829	c.G230A c.G230A c.G230A	p.R77Q p.R77Q p.R77Q	10.54	1.651E-5	Ji2016 E Krumm2015 E Satterstrom2020 E 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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