Variant Results

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Results for "HSF2"

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
HSF2	21854-36022	chr6: 122741371-122741371	A	AT	exonic			frameshift insertion	NM_001243094	c.686dupT	p.I229fs	-	7.0E-4	Callaghan2019 G
HSF2	7-0458-003	chr6: 122747448-122747448	A	C	intronic		De novo					-	-	Trost2022 G
HSF2	AU3792302	chr6: 122753977-122753977	A	G	UTR3		De novo					-	-	Trost2022 G
HSF2	AU2463301	chr6: 122723859-122723859	G	A	intronic		De novo					-	-	Trost2022 G
HSF2	SP0120233	chr6: 122753132-122753132	T	G	exonic		De novo	nonsynonymous SNV	NM_001135564 NM_004506	c.T1324G c.T1378G	p.S442A p.S460A	13.13	-	Fu2022 E Trost2022 G Zhou2022 GE
HSF2	5-0131-003	chr6: 122762274-122762274	C	T	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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