ELN gene homepage

General information
Gene symbol ELN
Gene name elastin
Chromosome 7
Chromosomal band q11.1-q21.1
Imprinted Unknown
Genomic reference NG_009261.1
Transcript reference NM_000501.2
Exon/intron information NM_000501.2 exon/intron table
Associated with diseases ADCL-1, WBS, Supravalvar aortic stenosis, Williams syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Zsolt Urban
Total number of public variants reported 6
Unique public DNA variants reported 6
Individuals with public variants 6
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated May 05, 2017
Version ELN:170505

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000501.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/ELN
External URL Orphanet
HGNC 3327
Entrez Gene 2006
PubMed articles ELN
OMIM - Gene 130160
OMIM - Diseases ADCL-1 (cutis laxa, autosomal dominant, type 1 (ADCL-1))
Supravalvar aortic stenosis
Williams syndrome
GeneCards ELN
GeneTests ELN

Active transcripts




NCBI ID     

NCBI Protein ID     

00001055 7 transcript variant 1 NM_000501.2 NP_000492.2 6

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.