2 Matching Annotations
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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Whole‐exome sequencing for variant discovery in blepharospasm
    2
    1. ClingenBaseline 21 Oct 2026
      10455

      Case#: 10455, Female, Caucasian, 48 years (onset), 58 years (report)

      CaseHPOs: HP:0000643, HP:0012048, HP:0000473 (Blepharospasm, oromandibular dystonia, cervical dystonia/torticollis)

      CaseHPOFreeText: Segmental dystonia (BSP, oromandibular, lower face, cervical)

      CaseNotHPOs:

      CasePreviousTesting: Prior to WES, pathogenic variants in THAP1, GNAL, and Exon 5 of TOR1A were excluded by high resolution melt analysis.

      CaseMethod1: WES

      CaseMethod2: Confirmation by Sanger sequencing

      Variant: NM_020821.2:c.9605C>G (p.Ala3202Gly)

      ClinVar: NA

      CAID: CA7594605

      gnomAD 0.000009584 (European non-Finnish); no homozygotes

      VariantEvidence: None

      CaseInfo inferred_gene_hgnc:23594 inferred_gene_source:CAID UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      10455

      Case#: 10455, Female, Caucasian, 48 years (onset), 58 years (report)

      CaseHPOs: HP:0000643, HP:0012048, HP:0000473 (Blepharospasm, oromandibular dystonia, cervical dystonia/torticollis)

      CaseHPOFreeText: Segmental dystonia (BSP, oromandibular, lower face, cervical)

      CaseNotHPOs:

      CasePreviousTesting: Prior to WES, pathogenic variants in THAP1, GNAL, and Exon 5 of TOR1A were excluded by high resolution melt analysis.

      CaseMethod1: WES

      CaseMethod2: Confirmation by Sanger sequencing

      Variant: NM_020821.2:c.9605C>G (p.Ala3202Gly)

      ClinVar: NA

      CAID: CA7594605

      gnomAD 0.000009584 (European non-Finnish); no homozygotes

      VariantEvidence: None

      CaseInfo inferred_gene_hgnc:23594 inferred_gene_source:CAID UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC6081235/