CFP gene homepage

General information
Gene symbol CFP
Gene name complement factor properdin
Chromosome X
Chromosomal band p11.4
Imprinted Unknown
Genomic reference LRG_129
Transcript reference NM_002621.2
Exon/intron information NM_002621.2 exon/intron table
Associated with diseases Properdin deficiency, X-linked
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 30
Unique public DNA variants reported 21
Individuals with public variants 32
Hidden variants 0
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated August 17, 2018
Version CFP:180817

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_002621.2.
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/CFP
External URL Orphanet
HGNC 8864
Entrez Gene 5199
PubMed articles CFP
OMIM - Gene 300383
OMIM - Diseases Properdin deficiency, X-linked
HGMD CFP
GeneCards CFP
GeneTests CFP


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000348 X transcript variant 1 NM_002621.2 NP_002612.1 30


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