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Results for "EMILIN2"

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
EMILIN2     2-0018-004chr18:
2899638-2899638
GAintronicDe novo--Yuen2017 G
EMILIN2     iHART1064chr18:
2890859-2890860
CGCexonicMaternalframeshift deletionNM_032048c.735delGp.T245fs--Ruzzo2019 G
EMILIN2     13512.p1chr18:
2892174-2892174
GAexonicDe novosynonymous SNVNM_032048c.G2049Ap.S683S-8.44E-6Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
EMILIN2     1-0203-004chr18:
2891697-2891697
GTexonicDe novosynonymous SNVNM_032048c.G1572Tp.L524L--Yuen2015 G
Yuen2017 G
EMILIN2     2-1228-003chr18:
2896122-2896135
CATATATATATATACATATATATATAintronicDe novo--Yuen2017 G
EMILIN2     12795.p1chr18:
2889243-2889249
TTTCTGTCTCGTGCintronicDe novo--Turner2016 G
EMILIN2     AU026412chr18:
2871657-2871657
GAintronicDe novo--Yuen2017 G
EMILIN2     1-0372-003chr18:
2896122-2896135
CATATATATATATACATATATATATAintronicDe novo--Yuen2017 G
EMILIN2     SSC07687chr18:
2892174-2892174
GAexonicDe novosynonymous SNVNM_032048c.G2049Ap.S683S-8.44E-6Lim2017 E
Source Variant Information

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Source:

Paper alias:

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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 notesView
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