Mutation Details for c.365A>G

cDNA Name c.365A>G 
Protein Name p.Tyr122Cys 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Y122C 
Other Details The mutation was detected by dHPLC analysis and characterised by direct sequencing. We have seen it only once, in over 2000 control chromosomes from Italian population. 
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Mattina T.*   2006-12-20
Institute Centro Malattie Rare, Dipartimento Pediatria, Padova, Italy * Genetica Medica, Policlinico Catania, Italy 
Submitted Phenotype Details The mutation was identified in suspect CF Italian patient (male, 12y). The patient has persistent lower airway infection and negative sweat test. He carries 2183 AA/G on the other allele. 

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The Database was last updated at Apr 25, 2011