Variant: rs575109631 

    present in Gene: CFH
    present in Chromosome: 1
    Position on Chromosome: 196745862
    Alleles of this Variant: A/G

rs575109631 in CFH gene and Complement Factor H Deficiency PMID 14978182 2004 Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.

PMID 11170896 2001 Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition.

PMID 16612335 2006 Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II).

PMID 9312129 1997 Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism.

PMID 11158219 2001 The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.

PMID 12020532 2002 Combined kidney and liver transplantation for familial haemolytic uraemic syndrome.

PMID 11170895 2001 Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

PMID 10803850 2000 Molecular basis for factor H and FHL-1 deficiency in an Italian family.