The HMCN1 gene homepage

This database is one of the "LOVD Eye disease gene databases".
General information
Gene symbol HMCN1
Gene name hemicentin 1
Chromosome 1
Chromosomal band q25.3-q31.1
Imprinted Unknown
Genomic reference NG_011841.1
Transcript reference NM_031935.2
Exon/intron information NM_031935.2 exon/intron table
Associated with diseases ARMD, ARMD-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 101
Unique public DNA variants reported 88
Individuals with public variants 565
Hidden variants 22
Date created July 16, 2012
Date last updated September 17, 2021
Version HMCN1:210917

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_031935.2.
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 http://www.LOVD.nl/HMCN1
HGNC 19194
Entrez Gene 83872
PubMed articles HMCN1
OMIM - Gene 608548
OMIM - Diseases ARMD-1 (macular degeneration, age-related, type 1 (ARMD-1))
HGMD HMCN1
GeneCards HMCN1
GeneTests HMCN1
Orphanet HMCN1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009460 1 hemicentin 1 NM_031935.2 NP_114141.2 101


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2012-2021. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.