3 Matching Annotations
  1. Last 7 days
  2. journals.plos.org journals.plos.org
    pone.0092575 1..14
    3
    1. ClingenBaseline 24 Oct 2026
      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

      DiseaseEntity:VWD3 Zygosity:Heterozygous Mutation:Missense CAID:CA228433 CAID:CA228435 CAID:CA6402669 CAID:CA114170 CAID:CA228459 CAID:CA383506714 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 23 Oct 2026
      14 2 F 28 c.3862C.Gp.L1288V Htz 3 2.6 6 + +

      Case: 14, F, 2 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: family history of disease, Consanguinity: yes

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: FVIII:C: (U/dl): 3, VWF:Ag (U/dl): 2.6, Bleeding Score: 6

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.3862C>G (p.Leu1288Val), Exon 28

      Heterozygous

      DiseaseEntity:VWD3 Zygosity:Heterozygous Mutation:Missense CAID:CA383506714 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    3. ClingenBaseline 22 Oct 2026
      66 5 F 28 c.3862C.G p.L1288V Htz 1.4 2.3 6 - -c.3931C.T p.Q1311*c.3951C.T p.A1317Ac.4027A.G p.I1343V

      Case: 66, F, 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): 1.4, VWF:Ag (U/dl): 2.3, Bleeding Score: 6

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.3862C>G (p.Leu1288Val), Exon 28

      c.3931C>T (p.Gln1311*), Exon 28

      c.3951C>T (p.Ala1317Ala), Exon 28

      c.4027A>G (p.Ile1343Val), Exon 28

      Heterozygous

      DiseaseEntity:VWD3 Mutation:Missense Mutation:Nonsense Zygosity:Heterozygous CAID:CA383506714 CAID:CA228496 CAID:CA6402645 CAID:CA228520 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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