Variant Results

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Results for "WDR47"

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
WDR47	AU3790302	chr1: 109599977-109599977	C	T	intergenic		De novo					-	-	Yuen2017 G
WDR47	12175.p1	chr1: 109545177-109545177	G	C	intronic		De novo					-	-	Turner2016 G
WDR47	2-1323-003	chr1: 109528297-109528297	C	T	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
WDR47	SP0058972	chr1: 109517213-109517213	A	C	exonic		De novo	synonymous SNV	NM_001142550 NM_001142551 NM_014969	c.T2586G c.T2562G c.T2565G	p.A862A p.A854A p.A855A	-	-	Fu2022 E Trost2022 G Zhou2022 GE
WDR47	21686-34166	chr1: 109553675-109553677	AAT	A	exonic			frameshift deletion	NM_001142550 NM_001142551 NM_014969	c.1012_1013del c.991_992del c.991_992del	p.I338fs p.I331fs p.I331fs	-	-	Callaghan2019 G
WDR47	SP0151508	chr1: 109556543-109556543	G	A	exonic			nonsynonymous SNV	NM_001142550 NM_001142551 NM_014969	c.C247T c.C247T c.C247T	p.R83C p.R83C p.R83C	34.0	9.162E-5	Zhou2022 GE
WDR47	1-0539-003	chr1: 109603124-109603124	C	CT	intergenic		De novo					-	-	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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