3 Matching Annotations
  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease
    3
    1. ClingenBaseline 24 Oct 2026
      1

      Patient1: Italian

      CasePresentingHPOs:

      HPOsFreeText: non-classic IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: homozygous

      CasePMIDs:

      CasePreviousTesting:

      CaseGenotypingMethod: method not described

      Variant: NM_000152.4(GAA):c.1655T>C (p.Leu552Pro)

      ClinVar: 278911, https://www.ncbi.nlm.nih.gov/clinvar/variation/279811/

      gnomAD: 0.00003188, https://gnomad.broadinstitute.org/variant/17-78085800-T-C

      Individual CaseInfo Variant ClinVarID:278911 inferred_gene_hgnc:6121 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 24 Oct 2026
      3

      Patient3: Italian

      CasePresentingHPOs:

      HPOsFreeText: Juvenile onset Pompe

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting:

      CaseGenotypingMethod: method not descibed

      Variant1: NM_000152.4(GAA):c.1655T>C (p.Leu552Pro)

      ClinVar: 278911, https://www.ncbi.nlm.nih.gov/clinvar/variation/279811/

      gnomAD: 0.00003188, https://gnomad.broadinstitute.org/variant/17-78085800-T-C

      Variant2: NM_000152.3:c.1333G>C

      CAID: CA401366220, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401366220

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:278911 CA401366220 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    3. ClingenBaseline 23 Oct 2026
      2

      Patient2: Italian

      CasePresentingHPOs:

      HPOsFreeText: non-classic IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting:

      CaseGenotypingMethod: method not described

      Variant1: NM_000152.4(GAA):c.1655T>C (p.Leu552Pro)

      ClinVar: 278911, https://www.ncbi.nlm.nih.gov/clinvar/variation/279811/

      gnomAD: 0.00003188, https://gnomad.broadinstitute.org/variant/17-78085800-T-C

      Variant2: NM_000152.3:c.-35C>A

      CAID: CA913184857, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184857

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:278911 CA913184857 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    sciencedirect.com/science/article/pii/S1525001616313107