Variant Results

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Results for "CEP250"

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
CEP250	SP0011057	chr20: 34055132-34055132	T	C	exonic		De novo	synonymous SNV	NM_007186	c.T603C	p.D201D	-	-	Fu2022 E
CEP250	08C77878	chr20: 34095615-34095615	A	C	exonic		De novo	nonsynonymous SNV	NM_007186	c.A6685C	p.S2229R	10.56	-	Fu2022 E
CEP250	72-1921	chr20: 34065858-34065858	G	A	exonic		Inherited	nonsynonymous SNV	NM_007186	c.G2026A	p.A676T	13.11	-	Patowary2019 E
CEP250	11905.p1	chr20: 34053866-34053866	G	T	exonic		De novo	nonsynonymous SNV	NM_007186	c.G329T	p.C110F	16.79	-	Satterstrom2020 E
CEP250	AU043804	chr20: 34049906-34049906	A	C	intronic		De novo					-	-	Yuen2017 G
CEP250	2-1120-003	chr20: 34071141-34071141	G	A	intronic		De novo					-	-	Yuen2017 G
CEP250	2-1093-009	chr20: 34068931-34068931	C	T	intronic		De novo					-	-	Yuen2017 G
CEP250	Cukier2014:37425	chr20: 34064340-34064340	C	T	exonic		Unknown	nonsynonymous SNV	NM_007186	c.C1783T	p.R595W	23.1	4.945E-5	Cukier2014 E
CEP250	AU031003	chr20: 34082456-34082461	CAGAAG	CAG	exonic		De novo	nonframeshift deletion	NM_007186	c.3142_3144del	p.1048_1048del	-	-	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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