2 Matching Annotations
  1. Last 7 days
  2. www.thieme-connect.com www.thieme-connect.com
    10.1055/a-2616-5161
    2
    1. ClingenBaseline 21 Oct 2026
      24–31 U (2A/2M/1C) c.4120C > T p.Arg1374Cys C 28 A1 htz Missense A/A/A/A/O/na/O/A22/ 22/23 /18/11/21/20/3210/8/6/12/4/9/11/1440 CSA /26 CSA /23

      Case: IP #26 in type U VWD sub-cohort

      DiseaseAssertion: unclassified (2A/2M/1C) VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032370 - blood group A

      CaseHPOFreeRext: VWF:Ag [IU/dL] = 23; VWF:Ac [IU/dL] = 6; FVIII:C [IU/dL] = 23

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.

      PreviouslyPublished:

      Gene: VWF

      Variant: c.4120C>T p.Arg1374Cys

      HGVS:

      ClinVarID: 100329

      CAID:

      gnomAD: absent

      ClinVarID:100329 Mutation:Missense InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD Zygosity:Heterozygous inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    2. ClingenBaseline 21 Oct 2026
      24–31 U (2A/2M/1C) c.4120C > T p.Arg1374Cys C 28 A1 htz Missense A/A/A/A/O/na/O/A22/ 22/23 /18/11/21/20/3210/8/6/12/4/9/11/1440 CSA /26 CSA /23 CSA /22 CSA /11 CSA /42 CSA /27

      Case: IP #30 in type U VWD sub-cohort

      DiseaseAssertion: unclassified (2A/2M/1C) VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032442 - blood group O

      CaseHPOFreeRext: VWF:Ag [IU/dL] = 20; VWF:Ac [IU/dL] = 11; FVIII:C [IU/dL] = 27

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.

      PreviouslyPublished:

      Gene: VWF

      Variant: c.4120C>T p.Arg1374Cys

      HGVS:

      ClinVarID: 100329

      CAID:

      gnomAD: absent

      ClinVarID:100329 DiseaseEntity:VWD Mutation:Missense Zygosity:Heterozygous InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
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