Mutation Details for c.606G>A

cDNA Name c.606G>A 
Protein Name p.Trp202X 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name W202X 
Other Details This change has been detected by SSCP/HD analysis and direct sequencing. The mutation destroys a MboI restriction site 
Contributors T. Casals, J. Gimenez, MD. Ramos, M. Sanchez-Solis   2003-04-09
Institute CGMM-IRO Barcelona, Spain Hospital V. Arrixaca, Murcia, Spain 
Submitted Phenotype Details 1 patient (male, 14 years old), PI since 8y, St aureus colonisation, bronchiectasis, FEV1 75%, sweat test 95mMol/L and F508del on the other allele. 

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The Database was last updated at Apr 25, 2011