Mutation Details for c.481T>A

cDNA Name c.481T>A 
Protein Name p.Tyr161Asn 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Y161N 
Other Details This putative mutation was detected by DGGE and identified by DNA fluorescent sequencing in an young patient from Southern France suffering from isolated nasal polyposis. He carries the G85E mutation on the other chromosome. 
Contributors Claustres M, des Georges M, Guittard C   2000-11-16
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details The patient is 15 yrs (male), PS, no lung disease, sweat chloride of 35 and 38 mEq/l. He has nasal polyposis. G85E on the other allele. (pers. corr. Claustres)  
Reference Claustres et al. 2000 

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The Database was last updated at Apr 25, 2011