Basic Information

CFHR5

Full name: complement factor H related 5

Gene type: protein coding

HGNC ID: HGNC:24668

Gene location: 1q31.3

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/81494

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:24668

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_030787.4

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q9BXR6

AlphaFold: https://alphafold.ebi.ac.uk/entry/Q9BXR6

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/608593

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=81494

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04610+81494

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
CFHR5		Intron Variant	rs201247969	dupTT	chr1:196989087-196989089 (GRCh38.p13)
CFHR5	Mean VA Change at 12 Months	3 Prime UTR Variant	rs10922153	T>G	chr1:197009485 (GRCh38.p13)
CFHR5		Intron Variant	rs10922152	T>A	chr1:196993876 (GRCh38.p13)
CFHR5		Intron Variant	rs1750311	C>A / C>T	chr1:196985095 (GRCh38.p13)