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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus
    2
    1. Vibhor 26 Jul 2026
      Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

      PMID: 10874631

      Gene: ABCA4

      HGNC ID: 34

      Case#: patient 34, female

      DiseaseAssertion: RP19

      FamilyInfo: paternal first cousin with STGD, healthy father heterozygous for 1938-1 G>A splice mutation, mother homozygous for normal allele

      CasePresentingHPOs: HP:0000662, HP:0007663, HP:0007737, HP:0001133

      CaseHPOFreeText: choriocapillaris atrophy, severe concentric reduction of the visual field, abrogation of rod function

      Genotyping Method: PRISMTM Ready Reaction Sequencing Kit on an automatic fluorometric DNA sequencer

      PreviouslyPublished: N/A

      Variant: NM_000350.3(ABCA4):c.1938-1G>A

      ClinVar: 99106 https://www.ncbi.nlm.nih.gov/clinvar/variation/99106/?term=%22ABCA4%22%5BGENE%5D+AND+%22(c.1938-1G%3EA)%22%5BVARNAME%5D

      gnomAD: 0.000002488 https://gnomad.broadinstitute.org/variant/1-94060760-C-T?dataset=gnomad_r4

      General ABCA4 HGNC:34 PMID:10874631 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
    2. Vibhor 26 Jul 2026
      Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

      PMID: 10874631

      Gene: ABCA4

      HGNC ID: 34

      Case#: patient 34, female

      DiseaseAssertion: STGD

      FamilyInfo: paternal first cousin with RP19, healthy father heterozygous for 1938-1 G>A splice mutation

      CasePresentingHPOs: HP:0007663, HP:0000608, HP:0000603,

      CaseHPOFreeText: yellowish flecks

      Genotyping Method: PRISMTM Ready Reaction Sequencing Kit on an automatic fluorometric DNA sequencer

      PreviouslyPublished: N/A

      Variant: NM_000350.3(ABCA4):c.1938-1G>A

      ClinVar: 99106 https://www.ncbi.nlm.nih.gov/clinvar/variation/99106/?term=%22ABCA4%22%5BGENE%5D+AND+%22(c.1938-1G%3EA)%22%5BVARNAME%5D

      gnomAD: 0.000002488 https://gnomad.broadinstitute.org/variant/1-94060760-C-T?dataset=gnomad_r4

      General ABCA4 HGNC:34 PMID:10874631 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC1734380/