1 Matching Annotations
  1. Aug 2026
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Preimplantation Genetic Diagnosis for Stargardt Disease
    1
    1. Vibhor 11 Aug 2026
      29-year-old man

      Case#: a 29-year-old man

      DiseaseAssertion: Stargardt Disease

      FamilyInfo: NR

      CasePresentingHPOs: HP:0007663

      CaseHPOFreeText: 20/70 visual acuity in both eyes

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      Genotyping Method: ABCA4 microarray (ABCR5000 chip)

      PreviouslyPublished: NR

      Variant: NM_000350.3:c.5882G>A, p.G1961E and c.5018+2C>T (rare splice variant)

      ClinVar: 7888, NR

      CAID: CA119132, NR

      SupplementalData: No CAID or ClinVar ID were found for the rare splice variant c.5018+2C>T

      InheritancePattern:AutosomalRecessive DiseaseEntity:STGD Mutation:Missense CAID:CA119132 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC2886672/