Variant NM_000492.4:c.3612G>A


Variant details:
Name NM_000492.4:c.3612G>A
Protein name NP_000483.3:p.(Trp1204*)
Genomic name (hg19) chr7:g.117267719G>A    UCSC    gnomAD
#Exon/intron exon 22
Legacy Name W1204X(3744G>A)
Class disease-causing
WT sequence CACACGTGAAGAAAGATGACATCTG G CCCTCAGGGGGCCAAATGACTGTCA
Mutant sequence CACACGTGAAGAAAGATGACATCTG A CCCTCAGGGGGCCAAATGACTGTCA






External sources:
dbSNP
rs121908765
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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