Mutation Details for c.1094T>C

cDNA Name c.1094T>C 
Protein Name p.Leu365Pro 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name L365P 
Other Details This mutation was found by SSCA and direct DNA sequencing in a CF patient diagnosed at 3, sweat chloride 79mEq/l, PS. He carries a DF508 in the paternal chromosome. 
Contributors Casals T, Gimenez J, Ramos M D, Estivill X   2000-08-02
Institute CGMM IRO Barcelona, Spain 
Submitted Phenotype Details Patient (M) is 10y, has PS, FEV1=93%, sweat-chloride levels of 79mM/l. He had Meconium Ileus at birth and was 3y when he was diagnosed) DeltaF508 was found on the other allele. (Pers. corr. Casals) 
Reference Casals et al. 2000 

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The Database was last updated at Apr 25, 2011