Variant Results

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Results for "MEX3D"

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
MEX3D	iHART1457	chr19: 1556777-1556777	G	T	exonic		De novo	nonsynonymous SNV	NM_001174118 NM_203304	c.C741A c.C741A	p.F247L p.F247L	14.85	-	Ruzzo2019 G
MEX3D	200675379_1082034622	chr19: 1555347-1555347	G	A	exonic		De novo	nonsynonymous SNV	NM_001174118	c.C1984T	p.L662F	12.46	2.0E-4	Fu2022 E
MEX3D	A140275	chr19: 1556837-1556837	G	T	exonic		De novo	synonymous SNV	NM_001174118 NM_203304	c.C681A c.C681A	p.T227T p.T227T	-	-	Fu2022 E
MEX3D	SP0051441	chr19: 1567901-1567901	C	A	exonic		De novo	nonsynonymous SNV	NM_001174118 NM_203304	c.G157T c.G157T	p.D53Y p.D53Y	13.2	-	Fu2022 E Zhou2022 GE
MEX3D	AU4468301	chr19: 1562239-1562239	G	A	intronic		De novo					-	-	Yuen2017 G
MEX3D	PN400170	chr19: 1567604-1567604	G	A	exonic		De novo	nonsynonymous SNV	NM_001174118 NM_203304	c.C454T c.C454T	p.P152S p.P152S	15.43	1.0E-4	Leblond2019 E
MEX3D	mAGRE1457	chr19: 1556777-1556777	G	T	exonic		De novo	nonsynonymous SNV	NM_001174118 NM_203304	c.C741A c.C741A	p.F247L p.F247L	14.85	-	Cirnigliaro2023 G
MEX3D	200675379@1082034622	chr19: 1555347-1555347	G	A	exonic		De novo	nonsynonymous SNV	NM_001174118	c.C1984T	p.L662F	12.46	2.0E-4	Satterstrom2020 E Trost2022 G Zhou2022 GE

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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