Variant Results

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Results for "UTS2R"

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
UTS2R	2-1510-003	chr17: 80338587-80338587	C	T	intergenic		De novo					-	-	Yuen2017 G
UTS2R	SP0018753	chr17: 80332195-80332195	T	G	UTR5		De novo					-	-	Fu2022 E
UTS2R	iHART2227	chr17: 80332376-80332376	C	A	exonic		Maternal	stopgain	NM_018949	c.C176A	p.S59X	16.78	2.034E-5	Ruzzo2019 G
UTS2R	Valentino2021:45	chr17: 80333044-80333044	C	T	exonic		Unknown	stopgain	NM_018949	c.C844T	p.Q282X	36.0	-	Valentino2021 E
UTS2R	1-0720-003	chr17: 80344913-80344913	C	T	intergenic		De novo					-	-	Yuen2017 G
UTS2R	AU3885304	chr17: 80342268-80342283	CGGCTCTGGCGTGGCT	CGGCT	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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