present in Gene: VWF
present in Chromosome: 12
Position on Chromosome: 6022833
Alleles of this Variant: A/G
rs61748511 in
VWF gene and
von Willebrand Disease, Type 1
PMID 11698279 2001 Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins.
PMID 10887119 2000 A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.