Variant Results

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Results for "AGK"

Variant Events: 10

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
AGK	13843_p1	chr7: 141321569-141321569	G	A	exonic		De novo	nonsynonymous SNV	NM_018238	c.G556A	p.E186K	20.4	-	Fu2022 E
AGK	mAGRE4046	chr7: 141341709-141341709	G	A	splicing		Paternal	splicing				19.54	-	Cirnigliaro2023 G
AGK	mAGRE4873	chr7: 141341053-141341053	G	A	exonic		Maternal	stopgain	NM_018238	c.G732A	p.W244X	37.0	-	Cirnigliaro2023 G
AGK	mAGRE4945	chr7: 141255368-141255368	G	GTAAC	splicing		Maternal	splicing				-	-	Cirnigliaro2023 G
AGK	7-0273-003	chr7: 141308050-141308050	C	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
AGK	330-04-101166	chr7: 141315266-141315266	C	A	intronic		De novo					-	1.0E-4	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
AGK	13843.p1	chr7: 141321569-141321569	G	A	exonic		De novo	nonsynonymous SNV	NM_018238	c.G556A	p.E186K	20.4	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Lim2017 E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
AGK	AU2299301	chr7: 141286266-141286266	A	T	intronic		De novo					-	-	Trost2022 G
AGK	MT_31.3	chr7: 141257751-141257751	T	C	intronic		De novo					-	-	Trost2022 G
AGK	SP0030009	chr7: 141310950-141310950	G	A	intronic		De novo					-	-	Fu2022 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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