Variant Results

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Results for "PHF8"

Variant Events: 5

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
PHF8	Bruno2021:XXIII	chrX: 54011416-54011419	CCTC	C	exonic		De novo	nonframeshift deletion	NM_001184897 NM_001184896 NM_015107 NM_001184898	c.2068_2070del c.2479_2481del c.2371_2373del c.2320_2322del	p.690_690del p.827_827del p.791_791del p.774_774del	-	-	Bruno2021 E
PHF8	AU2123302	chrX: 54047884-54047886	ATT	ATTTTTTT	intronic		De novo					-	-	Yuen2017 G
PHF8	AU054303	chrX: 53984871-53984871	T	C	intronic		De novo					-	-	Yuen2017 G
PHF8	7-0197-003	chrX: 54005337-54005337	A	G	intronic		De novo					-	-	Yuen2017 G
PHF8	1-0150-004	chrX: 54054647-54054647	C	T	intronic		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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