Variant Results

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Results for "EML2"

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
EML2	12194.p1	chr19: 46120003-46120003	G	A	intronic		Mosaic					-	0.1447	Dou2017 E
EML2	1-0155-003	chr19: 46126957-46126957	C	T	intronic		De novo					-	-	Yuen2017 G
EML2	iHART2743	chr19: 46122413-46122415	GGT	G	exonic		Maternal	frameshift deletion	NM_012155 NM_001193268 NM_001193269	c.1157_1158del c.1760_1761del c.1598_1599del	p.H386fs p.H587fs p.H533fs	-	8.622E-6	Ruzzo2019 G
EML2	A28	chr19: 46127682-46127682	C	T	intronic		De novo					-	-	Wu2018 G
EML2	2-0295-003	chr19: 46167025-46167025	T	G	intergenic		De novo					-	-	Yuen2017 G
EML2	2-1549-003	chr19: 46138100-46138100	C	G	intronic		De novo					-	-	Yuen2017 G
EML2	EGAN00001101246	chr19: 46136262-46136262	T	G	intronic		De novo					-	-	Satterstrom2020 E
EML2	11143.p1	chr19: 46137538-46137538	C	A	intronic		Mosaic					-	-	Dou2017 E
EML2	G01-GEA-87-HI	chr19: 46118004-46118004	C	T	intronic		De novo					-	-	Satterstrom2020 E
EML2	2-1408-003	chr19: 46125453-46125453	C	T	intronic		De novo					-	-	Yuen2017 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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