Mutation Details for c.830G>A

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.830G>A 
Protein Name p.Trp277X 
Exon or Intron  
Other Details  
Contributors and Institutes
Instituto Venezolano de Investigaciones Cientificas -
Submitted Phenotype Details The p.Trp277* mutation was caused by the transition of G to A at nucleotide position c.830 in exon 6b. It changes a tryptophan to a stop codon at amino acid 277 of the protein. This mutation was found in a third generation Venezuelan male patient carrying the p.Phe508del mutation on the other chromosome. The patient has respiratory symptomatology that appeared for the first time at 3 months of age. He had two positive sweat chloride tests (115 and 100 mmol/L). 
Reference in press 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011