Variant Results

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Results for "CDC42"

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
CDC42	1-0669-003	chr1: 22404979-22404979	C	T	exonic		De novo	nonsynonymous SNV	NM_001791 NM_044472 NM_001039802	c.C8T c.C8T c.C8T	p.T3I p.T3I p.T3I	25.4	-	Trost2022 G Yuen2017 G Zhou2022 GE
CDC42	1-0563-004	chr1: 22391477-22391481	TTGCC	T	intronic		De novo					-	-	Yuen2017 G
CDC42	SP0063809	chr1: 22418007-22418007	A	G	exonic			synonymous SNV	NM_001791 NM_001039802	c.A573G c.A573G	p.L191L p.L191L	-	8.314E-6	Zhou2022 GE
CDC42	2-0043-003	chr1: 22441326-22441326	C	T	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
CDC42	REACH000341	chr1: 22414520-22414520	C	T	intronic		De novo					-	-	Trost2022 G
CDC42	AU2410302	chr1: 22411774-22411774	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
CDC42	AU2441301	chr1: 22408593-22408593	G	C	intronic		De novo					-	-	Trost2022 G
CDC42	5-0030-003	chr1: 22401515-22401515	A	G	intronic		De novo					-	-	Trost2022 G 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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