3 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients
    3
    1. ClingenBaseline 24 Oct 2026

      Case#: 07003, Age 29, Female, Blood Type O+ (Table S3)

      Disease Assertion: VWD1

      FamilyInfo: The patient is the only member of Family#0703.

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: VWF:Ag: 25, VWF:RCo:24.9, FVIII:C: 50, VWF:CB:28

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Bleeding Score 5

      Protein Expression: N/A

      CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations

      Gene: VWF

      Variant:NM_000552.4:c.5170+10C>T and NM_000552.4:c.8254-5T>G

      ClinVar: 100418 ClinVar1

      CAID: CA228702 and CA923726359 CAID1 CAID2

      gnomAD: MAF of 0.01298 (326/ 25116 alleles) in the European (Finnish) population (CA228702).

      gnomAD1

      Individual CaseInfo SupplementalData Gene:VWF DiseaseEntity:VWD1 InheritancePattern:NoInheritanceAssertion Zygosity:Heterozygous CAID:CA228702 ClinVar:100418 CAID:CA923726359 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 24 Oct 2026

      Case#: 22001, Age 41, Female, Blood Type O+ (Table S3)

      Disease Assertion: VWD 1

      FamilyInfo: The patient is the only member of Family# 2201.

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Bleeding Score 14, VWF:Ag:18, VWF:RCo:17.5, FVIII:C: 35, VWF:CB: 17

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Protein Expression: N/A

      CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations

      Gene: VWF

      Variant: NM_000552.4:c.5170+10C>T (p.=) and NM_000552.4(VWF):c.7730-1G>C (p.=)

      ClinVar: 100418 and 100485 ClinVar1 ClinVar2

      CAID: CA228702 and CA228816 CAID1 CAID2

      gnomAD: 0.01298 (326/25116 alleles) in the European (Finnish) population. (CA228702) gnomAD

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD1 InheritancePattern:NoInheritanceAssertion Zygosity:Heterozygous SupplementalData ClinVar:100418 CAID:CA228702 ClinVar:100485 CAID:CA228816 Mutation:Intronic inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    3. ClingenBaseline 22 Oct 2026

      Case#: 36001, Age 5, Male, Blood Type A+ (Table S3)

      Disease Assertion: VWD 1

      FamilyInfo: The patient is the only member of Family#3601.

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: VWF:Ag: 33, VWF:RCo: 26.4, FVIII:C: 88, VWF:CB: 58

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Bleeding Score 2

      Protein Expression: N/A

      CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.

      Gene: VWF

      Variant: NM_000552.4(VWF):c.5170+10C>T (p.=) and NM_000552.4(VWF):c.7730-1G>C (p.=)

      ClinVar: 100418 and 100485 ClinVar1 ClinVar2

      CAID: CA228702 and CA228816 CAID1 CAID2

      gnomAD: MAF of 0.01298 (326/ 25116 alleles) in the European (Finnish) population (CA228702). gnomAD

      Individual CaseInfo SupplementalData Gene:VWF DiseaseEntity:VWD1 InheritancePattern:NoInheritanceAssertion Zygosity:Heterozygous ClinVar:100418 CAID:CA228702 ClinVar:100485 CAID:CA228816 Mutation:Intronic inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5709099/