The CFHR1 gene homepage

General information
Gene symbol CFHR1
Gene name complement factor H-related 1
Chromosome 1
Chromosomal band q32
Imprinted Unknown
Genomic reference LRG_149
Transcript reference NM_002113.2
Associated with diseases AHUS-1, ARMD-1
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 184
Unique public DNA variants reported 15
Individuals with public variants 35
Hidden variants 10
Date created November 30, -0001
Date last updated September 28, 2016
Version CFHR1:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:4888
Entrez Gene 3078
PubMed articles CFHR1
OMIM - Gene 134371
OMIM - Diseases AHUS-1 (hemolytic-uremic syndrome, atypical, type 1 (AHUS-1))
ARMD-1 (macular degeneration, age-related, type 1 (ARMD-1))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021085 1 complement factor H-related 1 NM_002113.2 NP_002104.2 184