Basic Information

CFD

Full name: complement factor D

Gene type: protein coding

HGNC ID: HGNC:2771

Gene location: 19p13.3

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/1675

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:2771

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_001928.4

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P00746

AlphaFold: https://alphafold.ebi.ac.uk/entry/P00746

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/134350

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=1675

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa00562+200576

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
CFD		Intron Variant	rs3826945	C>G / C>T	chr19:862912 (GRCh38.p13)
CFD	AMD	N/A	rs1651896	T>A / T>C / T>G	chr19:865835 (GRCh38.p13)
CFD	AMD	Missense Variant	rs35186399	G>A	chr19:860766 (GRCh38.p13)
CFD	AMD	Intron Variant	rs1683563	C>A / C>G	chr19:861593 (GRCh38.p13)
CFD	AMD	Splice Acceptor Variant	rs34337649	delG	chr19:863091-863093 (GRCh38.p13)