1 Matching Annotations
  1. Last 7 days
  2. www.liebertpub.com www.liebertpub.com
    Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations | Genetic Testing and Molecular Biomarkers
    1
    1. ClingenBaseline 22 Oct 2026
      PD07

      Patient7: Female, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1432G>A (p.Gly478Arg)

      ClinVar: 551295, https://www.ncbi.nlm.nih.gov/clinvar/variation/551295/

      gnomAD: 8.525e-06, http://exac.broadinstitute.org/variant/17-78083849-G-A

      Variant2: NM_000152.4(GAA):c.1802C>T (p.Ser601Leu)

      ClinVar: 194154, https://www.ncbi.nlm.nih.gov/clinvar/variation/194154/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:551295 ClinVarID:194154 inferred_gene_hgnc:30829 inferred_gene_source:ClinVar GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    liebertpub.com/doi/full/10.1089/gtmb.2016.0424