64 2 M 28 c.3835G.A p.V1279I Hmz 5.2 ,1 6 - +c.3931C.T p.Q1311*
Case: 64, M, 2 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: no family history of disease, Consanguinity: yes
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 5.2, VWF:Ag (U/dl): <1, Bleeding Score: 6
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.3835G>A (p.Val1279Ile), Exon 28
c.3931C>T (p.Gln1311*), Exon 28
Homozygous
46 5 F 28 c.3686T.G p.V1229G Htz 2.5 3.4 32 + -c.3692A.C p.N1231Tc.3789G.A p.S1263Sc.3797C.T p.P1266Lc.3835G.A p.V1279Ic.3862C.G p.L1288V
Case: 46, F, 5 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: family history of disease, Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 2.5, VWF:Ag (U/dl): 3.4, Bleeding Score: 32
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.3686T>G (p.Val1229Gly), Exon 28
c.3692A>C (p.Asn1231Thr), Exon 28
c.3789G>A (p.Ser1263Ser), Exon 28
c.3797C>T (p.Pro1266Leu), Exon 28
c.3835G>A (p.Val1279Ile), Exon 28
c.3862C>G (p.Leu1288Val), Exon 28
Heterozygous
29 0.8 F 28 c.3835G.A p.V1279I Hmz 1.6 1.8 3 + +
Case: 29, F, 0.8 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: family history of disease, Consanguinity: yes
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 1.6, VWF:Ag (U/dl): 1.8, Bleeding Score: 3
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.3835G>A (p.Val1279Ile), Exon 28
Homozygous
65 10 M 28 c.3789G.A p.S1263S Hmz 2.1 1.4 5 - -c.3797C.T p.P1266Lc.3835G.A p.V1279Ic.3931C.T p.Q1311*c.3951C.T p.A1317A
Case: 65, M, 10 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): 2.1, VWF:Ag (U/dl): 1.4, Bleeding Score: 5
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.3789G>A (p.Ser1263Ser), Exon 28
c.3797C>T (p.Pro1266Leu), Exon 28
c.3835G>A (p.Val1279Ile), Exon 28
c.3931C>T (p.Gln1311*), Exon 28
c.3951C>T (p.Ala1317Ala), Exon 28
Homozygous
Case#: Elayaperumal_2018_V-282, F, 2 y.o. (onset), origin in India
DiseaseAssertion: VWD type 3
FamilyInfo: reportedly not-consanguineous. No family history of bleeding.
ParentalGenotype: not reported
CasePresentingHPOs:
CaseHPOFreeText: bleeding score of 17, VWF:Ag of 0, FVIII:C 4.3%
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting: not reported
GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.
Gene: VWF
Variant: heterozygous c.2683C>T (Gln895), c.3835G>A (p.Val1279Ile), c.3931C>T (p.Gln1311)
HGVS: NM_000552.3:c.2683C>T, NM_000552.3:c.3835G>A, NM_000552.3:c.3931C>T
ClinVarID: -,100288,100307
CAID: -, CA228459, CA228496
gnomAD: 1: not found 2: MAF of 0.002604 (27/10370 allele, Ashkenazi Jewish) https://gnomad.broadinstitute.org/variant/12-6128749-C-T?dataset=gnomad_r2_1 3:
MultipleGeneVariants: