Family: III

Variant: p.Cys275Arg and p.Pro1337Leu confirmed in trans

Phenotype: FVIII:C 54 IU/dL, VWF:Ag 18 IU/dL, VWF Act 5 IU/dL, VWF:CB 8 IU/dL, VWF Act/VWF:Ag ratio 0.27, diagnosis 2B

CAID: CA228836

Case#: F14, II:2

DiseaseAssertion: Type 2 VWD

CaseHPOFreeText: loss of high and intermediate MWMs, VWF:Ag = 12; VWF:RCo = 3; VWF:GPIbM = 9; 0.21; 0.71; 3.31

CasePreviousTesting: Not clearly described

Gene: VWF

Variant: p.[C275R];[P1337L]

HGVS: c.823T>C (p.Cys275Arg), c.4010C>T (p.Pro1337Leu)

CAID: CA228836, CA228510

gnomAD: absent from gnomad, https://gnomad.broadinstitute.org/variant/12-6019408-G-A?dataset=gnomad_r4

PMID: 16409463

Notes: several variants, currently curating c.823T>C (p.Cys275Arg) and family 11 proband is compound het with p.Pro1337Leu. Nucleotide position are not provided and the family is asserted as type B but no GPIb, RIPA or VWF platelet binding assay data are reported.

Variant: c.823T>C p.Cys275Arg - used family membevr III-2 as proband for PP4