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    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 24 Oct 2026
      PD10

      Patient10: Male, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.2105G>A (p.Arg702His)

      ClinVar: 426278, https://www.ncbi.nlm.nih.gov/clinvar/variation/426278/

      gnomAD: 6.695e-05, http://exac.broadinstitute.org/variant/17-78087081-G-A

      Variant2: NM_000152.4(GAA):c.2297A>C (p.Tyr766Ser)

      ClinVar: 420102, https://www.ncbi.nlm.nih.gov/clinvar/variation/420102/

      gnomAD: 8.35e-06, http://exac.broadinstitute.org/variant/17-78090874-A-C

      Individual CaseInfo Variant ClinVarID:426278 ClinVarID:420102 inferred_gene_hgnc:11100 inferred_gene_source:ClinVar GAA variant
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0424