1 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
    1
    1. Vibhor 11 Sep 2026
      Table S9. List of unique causative variants detected in 858 STGD probands mmc8.xlsx (19.3KB, xlsx) Table S11. STGD1 cases with at least two (likely) causal ABCA4 variants mmc9.xlsx (39.6KB, xlsx)

      Case#: DNAID 072284/Pat191, female

      DiseaseAssertion: STGD1

      FamilyInfo: n/a

      CasePresentingHPOs:

      CaseHPOFreeText: "In classic STGD1, loss of central vision starts around the second decade of life, but both early- and late-onset subtypes have been extensively described." No patient-specific details provided

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: smMIPs sequencing of the complete ABCA4 locus

      PreviouslyPublished: n/a

      Variant: c.1519G>T (p.Asp507Tyr); c.4139C>T (p.Pro1380Leu) phase not confirmed

      CAID: CA958508

      SupplementalData: tables s9 and s11

      CAID:CA958508 CaseInfo Individual SupplementalTable inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC10534262/