Disease: Von Willebrand Disease (VWD)

Patient: 18 yo, Male, heterozygote

Variant: VWF NM_000552.5: c.5456_5842del p.(R1819_C1948delinsS)

Was not present in gnomAD when searched

Dominant negative effect

Phenotypes:

lower collagen-binding capacity

History of bleeding (epistaxis)

gum bleeding

cutaneous bruises

ADAMTS13 resistant

Family: Mother, father, sister are asymptomatic

Suggested as de novo, no picture found in patient's relative of the deletion, loss of A3 loop