Variant Results

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Results for "HTR7"

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
HTR7	AU4149301	chr10: 92612053-92612053	G	A	intronic		De novo					-	-	Yuen2017 G
HTR7	1-0513-003	chr10: 92595120-92595120	T	C	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
HTR7	AU3782303	chr10: 92565750-92565757	GTTACTTA	GTTA	intronic		De novo					-	-	Yuen2017 G
HTR7	1-0458-005	chr10: 92541855-92541855	C	A	intronic		De novo					-	-	Yuen2017 G
HTR7	AU3782302	chr10: 92583569-92583573	TGAGA	TGA	intronic		De novo					-	-	Yuen2017 G
HTR7	Cukier2014:17302	chr10: 92509055-92509055	G	A	exonic		Unknown	nonsynonymous SNV	NM_000872 NM_019859 NM_019860	c.C836T c.C836T c.C836T	p.P279L p.P279L p.P279L	16.21	0.002	Cukier2014 E

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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