Mutation Details for c.3257C>T

cDNA Name c.3257C>T 
Protein Name p.Thr1086Ile 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name T1086I 
Other Details T1086I was found in a 34-year old, CF adult female patient with PI, moderate pulmonary disease and sweat Cl of 113 mEq/L and unknown CFTR mutation on her other chromosome; it was not found in 200 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested. 
Contributors Bienvenu T, Bousquet S, Herbulot C, Beldjord C, Kaplan J C   1995-12-15
Institute Groupe Hôspitalier Cochin, Paris 
Submitted Phenotype Details One patient (male, 42) diagnosed at 10y, PI, moderate lung disease, sweat chloride 113mmol/l. Unknown other mutation. (pers. corr. Bienvenu) 
Reference Bienvenu et al (NL#67) 

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The Database was last updated at Apr 25, 2011