Variant Results

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Results for "SGSH"

Variant Events: 8

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
SGSH	SP0045058	chr17: 78184821-78184821	C	T	intronic		De novo					-	6.262E-5	Fu2022 E
SGSH	A0244	chr17: 78187614-78187614	C	T	exonic		Maternal	nonsynonymous SNV	NM_000199	c.G734A	p.R245H	15.67	4.0E-4	Xiong2019 ET
SGSH	Chen2021:19	chr17: 78187614-78187614	C	T	exonic		Maternal	nonsynonymous SNV	NM_000199	c.G734A	p.R245H	15.67	4.0E-4	Chen2021 GET
SGSH	SP0027488	chr17: 78183500-78183500	C	T	UTR3		De novo					-	-	Fu2022 E Trost2022 G Trost2022 G
SGSH	Chen2021:19	chr17: 78187981-78187981	A	ACA	exonic		Paternal	frameshift insertion	NM_000199	c.652_653insTG	p.L218fs	-	-	Chen2021 GET
SGSH	SP0215297	chr17: 78183476-78183476	A	G	UTR3		De novo					-	-	Trost2022 G Trost2022 G
SGSH	A0244	chr17: 78187981-78187981	A	ACA	exonic		Paternal	frameshift insertion	NM_000199	c.652_653insTG	p.L218fs	-	-	Xiong2019 ET
SGSH	Wang2023:614	chr17: 78188441-78188441	C	T	exonic		De novo	nonsynonymous SNV	NM_000199	c.G479A	p.R160Q	13.31	1.712E-5	Wang2023 E

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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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