3 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
    3
    1. ClingenBaseline 21 Oct 2026
      PD12

      Patient12: Male, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.3:c.2585del

      CAID: CA913184734, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184734

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481, https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: 1.653e-05, http://exac.broadinstitute.org/variant/17-78093082-CTG-C

      Individual CaseInfo Variant CA913184734 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    2. ClingenBaseline 21 Oct 2026
      PD17

      Patient17: Female, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4(GAA):c.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481, https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: 1.653e-05, http://exac.broadinstitute.org/variant/17-78093082-CTG-C

      Individual CaseInfo Variant ClinVarID:4029 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    3. ClingenBaseline 21 Oct 2026
      PD19

      Patient19: Male, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4(GAA):c.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481, https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: 1.653e-05, http://exac.broadinstitute.org/variant/17-78093082-CTG-C

      Individual CaseInfo Variant ClinVarID:4029 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0424