3 Matching Annotations
  1. Aug 2026
  2. illiad.lib.unc.edu illiad.lib.unc.edu
    3179659.pdf
    1
    1. Vibhor 12 Aug 2026
      P023 ABCA4 20 c.3035_3037delACA p.Asn1012Ile ATP-binding domain novel deletion – DCABCA4 24 c.3547G>T p.Gly1183Cys – reported – – –ABCA4 46 c.6289C>T p.Pro2097Ser ATP-binding domain novel missense probablydamagingDC

      Case#: Patient #P023, Korean

      DiseaseAssertion: stargardt

      FamilyInfo: n/a

      CasePresentingHPOs:

      CaseHPOFreeText: no individual phenotype information, group only

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished: n/a

      Variant: exome sequencing: c.6289C>T p.Pro2097Ser; c.3547G>T p.Gly1183Cys; c.3035_3037delACA p.Asn1012Ile

      ClinVar: CA341277622

      CAID: 2202780

      SupplementalData: n/a

      GroupDemographics CA341277622 ClinVarID: 2202780 InsufficientEvidence CaseInfo Individual automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    illiad.lib.unc.edu/RemoteAuth/NOH/illiad.dll
  3. Jul 2026
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Investigating the associations of macular edema in retinitis pigmentosa
    2
    1. Vibhor 26 Jul 2026
      See Supplementary Table S2 for a complete genotypic glossary of the cohort.

      Case#: Patients were identified from the inherited retinal disease (IRD) database at UC San Diego (UCSD).

      DiseaseAssertion: RP with macular edema

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: Dx of RP based on "a history of progressive peripheral vision loss or nyctalopia, and ocular examination findings of RP including bone spicule pigmentation, disc pallor and attenuated vessels and genetic confirmation."

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: Next-generation sequencing (NGS), exome sequencing, and/or targeted Sanger sequencing were the primary genetic testing approaches.

      PreviouslyPublished: PMID:10206579 is referenced but it seems a reference to the variant and not the proband

      Variant: c.6383A>G (p.His2128Arg); c.3G>T (p.Met1?). phase unknown

      ClinVar: 99455

      CAID: CA227399

      SupplementalData: Variant is found in table S2

      SupplementalTable CaseInfo Individual ClinVarID: 99455 CA227399 GroupDemographics automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
    2. Vibhor 09 Jul 2026
      See Supplementary Table S2 for a complete genotypic glossary of the cohort.

      Case#: Patients were identified from the inherited retinal disease (IRD) database at UC San Diego (UCSD).

      DiseaseAssertion: RP with macular edema

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: Dx of RP based on "a history of progressive peripheral vision loss or nyctalopia, and ocular examination findings of RP including bone spicule pigmentation, disc pallor and attenuated vessels and genetic confirmation."

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: Next-generation sequencing (NGS), exome sequencing, and/or targeted Sanger sequencing were the primary genetic testing approaches.

      PreviouslyPublished: PMID:10206579 is referenced but it seems a reference to the variant and not the proband

      Variant: c.6383A>G (p.His2128Arg); c.3G>T (p.Met1?). phase unknown

      ClinVar: 99455

      CAID: CA227399

      SupplementalData: Variant is found in table S2

      SupplementalTable CaseInfo Individual ClinVarID: 99455 CA227399 GroupDemographics ClinGen ABCA4 Annotations hgnc_imputed:HGVS
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    ncbi.nlm.nih.gov/pmc/articles/PMC10469217/