Mutation Details for c.3709G>A

cDNA Name c.3709G>A 
Protein Name p.Gly1237Ser 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name G1237S 
Other Details This mutation was found by SSCA and direct DNA sequencing in a woman 35 years old with bronchiectasis. 
Contributors Casals T, Gimenez J, Ramos M D, Estivill X   2000-08-02
Institute CGMM IRO Barcelona, Spain 
Submitted Phenotype Details This mutation was found in 2 patients (siblings). 1. patient (F) is 36y, has PS, FEV1=39%, bronchiectasis and sweat-chloride levels of 45mM/l. No other mutation has been found. 2. patient (M) is 40, has PS, FEV1=73%, bronchiectasis and sweat-chloride levels of 37%. He also has Oligo azoospermia. No other mutation has been found. (Pers. corr. Casals) 
Reference Casals et al. 2000 

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The Database was last updated at Apr 25, 2011