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RFT1 - RFT1 homolog

  • Synonym(s) : CDG1N, congenital disorder of glycosylation 1N
  • Previous symbols and names : RFT1 homolog (S. cerevisiae), RFT1, requiring fifty three 1 homolog (S. cerevisiae)
  • Type : gene with protein product
  • Chromosomal location : 3p21.1
  • OMIM: 611908
  • HGNC: 30220
  • UniProtKB: Q96AA3
  • Genatlas: RFT1
  • Ensembl: ENSG00000163933
  • IUPHAR-DB: -
  • Reactome: Q96AA3
  • LOVD: RFT1

Diseases list

  • Disease-causing germline mutation(s) in RFT1-CDG ORPHA:244310
  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Patient-centred resources for this gene

Specialised Social Services

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