LOVD ELN homepage

General information
Gene name elastin
Gene symbol ELN
Chromosome Location 7q11.1-q21.1
Database location grenada.lumc.nl
Curator Zsolt Urban
Database reference for citations PMID8096434
PubMed references View all (unique) PubMed references in the ELN database
Date of creation April 29, 2010
Last update January 05, 2013
Version ELN130105
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_009261.1
Transcript refseq ID NM_000501.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
Subscribe to updates of this gene

Graphical displays and utilities
Summary tables Summary of all sequence variants in the ELN database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 3327
Entrez Gene 2006
OMIM - Gene 130160
OMIM - Disease #1 CUTIS LAXA, AUTOSOMAL DOMINANT
OMIM - Disease #2 WILLIAMS-BEUREN SYNDROME
OMIM - Disease #3 SUPRAVALVULAR AORTIC STENOSIS
UniProtKB (SwissProt/TrEMBL) Q6ZWJ6
HGMD ELN
GeneCards ELN
GeneTests ELN
External link Orphanet