The CFH gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol CFH
Gene name complement factor H
Chromosome 1
Chromosomal band q32
Imprinted Unknown
Genomic reference LRG_47
Transcript reference NM_000186.3
Exon/intron information NM_000186.3 exon/intron table
Associated with diseases AHUS1, ARMD, ARMD-4, BLD, CFHD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) James Smith and Judy Savige
Total number of public variants reported 220
Unique public DNA variants reported 129
Individuals with public variants 271
Hidden variants 11
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created February 13, 2012
Date last updated September 17, 2021
Version CFH: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_000186.3.
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/CFH
HGNC 4883
Entrez Gene 3075
PubMed articles CFH
OMIM - Gene 134370
OMIM - Diseases AHUS1 (hemolytic-uremic syndrome, atypical, type 1 (AHUS1))
ARMD-4 (macular degeneration, age-related, type 4 (ARMD-4))
BLD (basal laminar drusen (BLD))
CFHD (deficiency, complement factor H (CFHD))
HGMD CFH
GeneCards CFH
GeneTests CFH
Orphanet CFH


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000233 1 transcript variant 1 NM_000186.3 NP_000177.2 220


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.