Variant Results

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Results for "CDC42BPG"

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
CDC42BPG	Li2017:20303	chr11: 64607713-64607713	C	T	exonic		Unknown	nonsynonymous SNV	NM_017525	c.G460A	p.G154R	22.9	-	Li2017 T
CDC42BPG	SSC05431	chr11: 64601101-64601101	T	G	exonic		Mosaic	nonsynonymous SNV	NM_017525	c.A2596C	p.T866P	9.254	7.0E-4	Lim2017 E
CDC42BPG	Li2017:18399	chr11: 64597150-64597150	C	T	exonic		Unknown	nonsynonymous SNV	NM_017525	c.G3760A	p.E1254K	21.7	9.952E-6	Li2017 T
CDC42BPG	Li2017:23694	chr11: 64606247-64606247	G	T	exonic		Unknown	nonsynonymous SNV	NM_017525	c.C1004A	p.P335H	19.22	8.355E-6	Li2017 T
CDC42BPG	A12011-1	chr11: 64594823-64594823	G	A	exonic		Unknown	stopgain	NM_017525	c.C4198T	p.Q1400X	42.0	-	Li2017 T
CDC42BPG	A9	chr11: 64594823-64594823	G	A	exonic		De novo	stopgain	NM_017525	c.C4198T	p.Q1400X	42.0	-	Wu2018 G
CDC42BPG	DEASD_1045_001	chr11: 64594104-64594104	T	G	intronic		De novo					-	-	Satterstrom2020 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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