present in Gene: KLKB1
present in Chromosome: 4
Position on Chromosome: 186257283
Alleles of this Variant: G/A
rs121964951 in
KLKB1 gene and
Prekallikrein deficiency
PMID 17598838 2007 A new type of plasma prekallikrein deficiency associated with homozygosity for Gly104Arg and Asn124Ser in apple domain 2 of the heavy-chain region.
PMID 14652634 2003 Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr).