Variant Results

or

or

Results for "EMILIN1"

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
EMILIN1	SP0215357	chr2: 27308768-27308768	C	T	exonic		De novo	nonsynonymous SNV	NM_007046	c.C2936T	p.A979V	16.18	-	Trost2022 G Trost2022 G
EMILIN1	SSC05396	chr2: 27304987-27304987	A	C	exonic		De novo	nonsynonymous SNV	NM_007046	c.A548C	p.E183A	14.11	-	Fu2022 E Lim2017 E Trost2022 G
EMILIN1	SP0013663	chr2: 27305584-27305584	G	A	exonic		De novo	nonsynonymous SNV	NM_007046	c.G1145A	p.R382Q	17.85	0.0014	Trost2022 G
EMILIN1	Cukier2014:17342	chr2: 27308159-27308159	G	A	exonic		Unknown	nonsynonymous SNV	NM_007046	c.G2707A	p.E903K	3.696	0.0198	Cukier2014 E
EMILIN1	GAU0004C	chr2: 27306666-27306666	G	A	exonic		De novo	nonsynonymous SNV	NM_007046	c.G2227A	p.G743R	16.49	8.407E-6	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
EMILIN1	200675324_1082034490	chr2: 27303751-27303751	G	C	exonic		De novo	nonsynonymous SNV	NM_007046	c.G442C	p.A148P	3.008	-	Fu2022 E
EMILIN1	DEASD_2002_002	chr2: 27307330-27307330	C	A	exonic		De novo	nonsynonymous SNV	NM_007046	c.C2488A	p.P830T	13.69	-	Fu2022 E
EMILIN1	12673.p1	chr2: 27304987-27304987	A	C	exonic		De novo	nonsynonymous SNV	NM_007046	c.A548C	p.E183A	14.11	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
EMILIN1	200675324@1082034490	chr2: 27303751-27303751	G	C	exonic		De novo	nonsynonymous SNV	NM_007046	c.G442C	p.A148P	3.008	-	Satterstrom2020 E Trost2022 G Zhou2022 GE

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notes	View
	More