Hypothesis

1 Matching Annotations

Last 7 days
link.springer.com link.springer.com

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study

1
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  c.1447G>T
  
  Variant: NM_000152.4:c.1447G>T (p.Gly483Trp)
  
  CAID: CA401366801 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3%3Ac.1447G%3ET
  
  gnomAD: Not in gnomAD
  
  VariantAddInfo: This variant was declared as novel and found in a patient, but no further information was given.
  
  Variant CA401366801 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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Tags

Variant

inferred_gene_source:CAID

inferred_gene_hgnc:4065

CA401366801

GAA variant

Annotators

ClingenBaseline

URL

link.springer.com/article/10.1007/s10545-018-0243-7