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
2 Matching Annotations
- Oct 2026
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
II2
Proband: Mazurier_II2
AgeAtReport: 20yo female
HPO: HP:0000421, HP:0002248, hematoma but did not specify spontaneous and/or frequent
Labs: 4 measurements taken for the same proband so values are a range: FVIII:C 4-10 IU/dL, VWF:Ag 30-53 IU/dL, FVIII:Ag 4-8 IU/dL, VWF:FVIIIB absent
Variant: C1060R - NM_000552.5:c.3178T>C (maternal)
Variant: Y357X - NM_000552.5:c.1071C>A (paternal)
CAID: CA114176
CAID: CA114174
-