Variant NM_000492.4:c.2547C>A


Variant details:
Name NM_000492.4:c.2547C>A
Protein name NP_000483.3:p.(Tyr849*)
Genomic name (hg19) chr7:g.117235040C>A    UCSC    gnomAD
#Exon/intron exon 15
Legacy Name Y849X
Class disease-causing
WT sequence CAGCAGTGACTACATGGAACACATA C CTTCGATATATTACTGTCCACAAGA
Mutant sequence CAGCAGTGACTACATGGAACACATA A CTTCGATATATTACTGTCCACAAGA






External sources:
dbSNP
rs397508394
Not found






No patient found in CFTR-NGS catalogue

No patient found in CFTR-France



            CFTR variants are clustered into five groups:
  • CF-causing: when in trans with another CF-causing mutation, will result in CF.
  • CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-related disorders (CFTR-RD) such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011.
  • Varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD.
  • Non disease-causing: when in trans with a CF-causing mutation, will not cause CF, nor CFTR-RD.
  • VUS (Variant of unknown clinical significance): unclassified because of insufficient data.



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