Variant Results

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Results for "ZFX"

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
ZFX	iHART2376	chrX: 24170835-24170835	A	G	splicing		Maternal	splicing				-	-	Ruzzo2019 G
ZFX	AU056804	chrX: 24279930-24279933	CTTT	CTTTT	intergenic		De novo					-	-	Yuen2017 G
ZFX	AU035204	chrX: 24197488-24197488	G	C	exonic		Unknown	nonsynonymous SNV	NM_001178084 NM_001178095 NM_003410 NM_001178085	c.G247C c.G247C c.G247C c.G247C	p.E83Q p.E83Q p.E83Q p.E83Q	18.08	2.0E-4	Chahrour2012 E
ZFX	AU021204	chrX: 24327796-24327833	AAAAAAAAAAAATTAAAAAAAAAAATTAAAAAAAAAAA	AAAAAAAAAAAATTAAAAAAAAAAA	intergenic		De novo					-	-	Yuen2017 G
ZFX	SP0072873	chrX: 24228938-24228938	G	A	exonic			synonymous SNV	NM_001178086 NM_001178084 NM_003410 NM_001178085	c.G1176A c.G1863A c.G1863A c.G1863A	p.Q392Q p.Q621Q p.Q621Q p.Q621Q	-	-	Zhou2022 GE

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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