Variant Results

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Results for "STXBP3"

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
STXBP3	SP0083624	chr1: 109294960-109294961	AT	A	intronic		De novo					-	-	Fu2022 E
STXBP3	iHART2468	chr1: 109302705-109302705	C	T	exonic		Maternal	stopgain	NM_007269	c.C436T	p.Q146X	38.0	-	Ruzzo2019 G
STXBP3	AU3874302	chr1: 109327601-109327601	G	A	intronic		De novo					-	-	Yuen2017 G
STXBP3	iHART2466	chr1: 109302705-109302705	C	T	exonic		Maternal	stopgain	NM_007269	c.C436T	p.Q146X	38.0	-	Ruzzo2019 G
STXBP3	DEASD_0397_001	chr1: 109315441-109315441	G	A	exonic		De novo	nonsynonymous SNV	NM_007269	c.G593A	p.S198N	13.23	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
STXBP3	09C95782	chr1: 109321932-109321932	A	G	exonic		De novo	nonsynonymous SNV	NM_007269	c.A709G	p.I237V	19.21	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Neale2012 E Satterstrom2020 E

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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