48 2.5 M 19 c.2443-1G.C Hmz 2.5 ,1 6 - -
Case: 48, M, 2.5 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: no family history of disease, Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 2.5, VWF:Ag (U/dl): <1, Bleeding Score: 6
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2443-1G>C, Exon 19
Homozygous
50 12 M 19 c.2443-1G.C Hmz 2 1 6 - -
Case: 50, M, 12 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: no family history of disease, Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 2, VWF:Ag (U/dl): 1, Bleeding Score: 6
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2443-1G>C, Exon 19
Homozygous
49 1.1 F 19 c.2443-1G.C Hmz 4 2.6 3 - -
Case: 49, F, 1.1 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: no family history of disease, Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 4, VWF:Ag (U/dl): 2.6, Bleeding Score: 3
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2443-1G>C, Exon 19
Homozygous
Case#: Elayaperumal_2018_V-307 , F, 1 y.o. (onset), origin in India
DiseaseAssertion: VWD type 3
FamilyInfo: consanguinity reported. family history negative
ParentalGenotype: not reported
CasePresentingHPOs:
CaseHPOFreeText: Bleeding score 4, VWF:Ag 0, FVIII:C 1.6%
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting: not reported
GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.
Gene: VWF
Variant: homozygous c.2443-1G>C
HGVS: NM_000552.3:c.2443-1G>C
ClinVarID: 100222
CAID: CA228342
gnomAD: Popmax (-). MAF 0.000008796 (1/113692) in the European (non-Finnish) population. No homozygotes reported.
MultipleGeneVariants: