Variant Results

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Results for "AZGP1"

Variant Events: 9

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
AZGP1	iHART2076	chr7: 99565954-99565954	T	TCAATGTAGTC	exonic		Maternal	stopgain	NM_001185	c.436_437insGACTACATTG	p.E146_F147delinsGLHX	-	7.415E-5	Ruzzo2019 G
AZGP1	2-1169-003	chr7: 99573613-99573614	GA	G	exonic		De novo	frameshift deletion	NM_001185	c.30delT	p.S10fs	-	-	Yuen2015 G Yuen2017 G Zhou2022 GE
AZGP1	MT_38.3	chr7: 99563626-99563626	A	G	downstream		De novo					-	-	Trost2022 G
AZGP1	SP0184219	chr7: 99564793-99564793	C	T	exonic		De novo	nonsynonymous SNV	NM_001185	c.G730A	p.E244K	2.812	8.347E-6	Trost2022 G
AZGP1	1-0652-003	chr7: 99565369-99565369	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
AZGP1	NP129	chr7: 99573589-99573589	C	T	exonic		Mosaic	nonsynonymous SNV	NM_001185	c.G55A	p.V19I	9.719	5.766E-5	Lim2017 E
AZGP1	SSC05778	chr7: 99573589-99573589	C	T	exonic		Mosaic	nonsynonymous SNV	NM_001185	c.G55A	p.V19I	9.719	5.766E-5	Lim2017 E
AZGP1	mAGRE2076	chr7: 99565954-99565954	T	TCAATGTAGTC	exonic		Maternal	stopgain	NM_001185	c.436_437insGACTACATTG	p.E146_F147delinsGLHX	-	7.415E-5	Cirnigliaro2023 G
AZGP1	mAGRE5344	chr7: 99565930-99565930	C	T	exonic		Maternal	stopgain	NM_001185	c.G461A	p.W154X	9.139	5.766E-5	Cirnigliaro2023 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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