Variant Results

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Results for "DCAF4"

Variant Events: 6

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
DCAF4	2-1409-003	chr14: 73422723-73422723	C	T	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
DCAF4	AU01303	chr14: 73420965-73420965	G	C	exonic		De novo	nonsynonymous SNV	NM_181341 NM_181340 NM_001163508 NM_001163509 NM_015604	c.G722C c.G602C c.G905C c.G839C c.G902C	p.S241T p.S201T p.S302T p.S280T p.S301T	24.0	-	Lim2017 E Neale2012 E
DCAF4	iHART1257	chr14: 73420965-73420965	G	C	exonic		De novo	nonsynonymous SNV	NM_181341 NM_181340 NM_001163508 NM_001163509 NM_015604	c.G722C c.G602C c.G905C c.G839C c.G902C	p.S241T p.S201T p.S302T p.S280T p.S301T	24.0	-	Ruzzo2019 G
DCAF4	SP0015379	chr14: 73407001-73407001	C	G	exonic		De novo	nonsynonymous SNV	NM_001163508 NM_001163509 NM_015604 NM_181341	c.C267G c.C201G c.C267G c.C267G	p.N89K p.N67K p.N89K p.N89K	20.8	-	Feliciano2019 E Fu2022 E
DCAF4	SP0059815	chr14: 73428716-73428716	T	G	intergenic		De novo					-	-	Fu2022 E
DCAF4	SP0121915	chr14: 73428716-73428716	T	G	intergenic		De novo					-	-	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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