Variant Results

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Results for "C1orf50"

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
C1orf50	MSSNG00429-003	chr1: 43239245-43239245	C	A	exonic		De novo	nonsynonymous SNV	NM_024097	c.C207A	p.F69L	18.16	-	Trost2022 G Zhou2022 GE
C1orf50	9190777	chr1: 43240888-43240888	G	A	exonic		De novo	synonymous SNV	NM_024097	c.G423A	p.G141G	-	-	Fu2022 E
C1orf50	AU056003	chr1: 43242234-43242234	C	T	downstream		De novo					-	-	Trost2022 G Yuen2017 G
C1orf50	PN400100	chr1: 43240508-43240508	G	A	exonic		Unknown	nonsynonymous SNV	NM_024097	c.G383A	p.G128D	34.0	-	Leblond2019 E
C1orf50	SP0085402	chr1: 43233086-43233086	G	A	intronic		De novo					-	-	Fu2022 E Trost2022 G Trost2022 G
C1orf50	SP0049070	chr1: 43232933-43232933	G	C	UTR5		De novo					-	-	Fu2022 E
C1orf50	GEA378	chr1: 43233055-43233055	C	T	exonic		De novo	stopgain	NM_024097	c.C73T	p.Q25X	23.9	-	Fu2022 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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