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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients
    1
    1. Vibhor 26 Jul 2026
      STGD-4F30ABCA4c.4555delAp.T1519Rfs*5HeteroARN/AN/AN/AN/AYABCA4c.6397T>Cp.C2133RHeteroD1D2D322.80Y

      Case#: Sporadic Patient #4, female, Chinese, 30yo at report

      DiseaseAssertion: STGD

      FamilyInfo: n/a, sporadic case

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: WES with Sanger sequencing confirmation

      PreviouslyPublished: no

      Variant: c.4555delA p.(T1519Rfs*5); c.6397T>C p.(C2133R)

      ClinVar: 2021273; 2733921

      CAID: CA341277387; CA645372203

      SupplementalData:

      ClinVarID: 2021273 CA341277387 CaseInfo Individual ClinVarID: 2733921 CA645372203 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC8956586/