Variant Results

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Results for "AMBP"

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
AMBP	AU4099301	chr9: 116823984-116823984	T	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
AMBP	SSC09758	chr9: 116824955-116824955	A	G	splicing		De novo	splicing				13.58	-	Fu2022 E Lim2017 E Trost2022 G
AMBP	SP0037584	chr9: 116840415-116840415	C	T	exonic		De novo	synonymous SNV	NM_001633	c.G75A	p.P25P	-	4.0E-4	Fu2022 E Trost2022 G Zhou2022 GE
AMBP	11465.p1	chr9: 116823156-116823156	G	A	intronic		De novo					-	-	Satterstrom2020 E
AMBP	13993.p1	chr9: 116824955-116824955	A	G	splicing		De novo	splicing				13.58	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
AMBP	SP0065112	chr9: 116840375-116840375	G	A	exonic		De novo	nonsynonymous SNV	NM_001633	c.C115T	p.R39W	15.69	5.768E-5	Trost2022 G
AMBP	SSC06245	chr9: 116823156-116823156	G	A	intronic		De novo					-	-	Trost2022 G
AMBP	MSSNG00017-004	chr9: 116833705-116833705	G	A	intronic		De novo					-	-	Trost2022 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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