Variant Results

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Results for "HTATSF1"

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
HTATSF1	11196.p1	chrX: 135585047-135585050	AAAG	A	exonic			nonframeshift deletion	NM_014500 NM_001163280	c.682_684del c.682_684del	p.228_228del p.228_228del	-	5.73E-5	Zhou2022 GE
HTATSF1	AU057405	Complex Event; expand row to view variants					De novo	nonframeshift deletion	NM_014500 NM_001163280 NM_014500 NM_001163280	c.694_696del c.694_696del c.682_684del c.682_684del	p.232_232del p.232_232del p.228_228del p.228_228del	-	5.73E-5	Yuen2017 G Zhou2022 GE
HTATSF1	SP0125430	chrX: 135594112-135594112	G	A	exonic			synonymous SNV	NM_014500 NM_001163280	c.G2208A c.G2208A	p.G736G p.G736G	-	-	Zhou2022 GE
HTATSF1	MSSNG00019-003A	chrX: 135593085-135593085	C	T	exonic			nonsynonymous SNV	NM_014500 NM_001163280	c.C1181T c.C1181T	p.A394V p.A394V	11.64	1.143E-5	Zhou2022 GE
HTATSF1	Al-Mubarak2017:ASD-24	chrX: 135591309-135591309	T	G	exonic		Unknown	nonsynonymous SNV	NM_014500 NM_001163280	c.T894G c.T894G	p.F298L p.F298L	19.4	-	Al-Mubarak2017 E
HTATSF1	AU3782303	chrX: 135609204-135609204	T	A	intergenic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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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