Mutation Details for c.14C>T

cDNA Name c.14C>T 
Protein Name p.Pro5Leu 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name P5L 
Other Details This mutation was detected by SSCP analysis, followed by direct sequencing. Mutation P5L was found in 1/50 unrelated Spanish CF non-[delta]F508 chromosomes. 
Contributors Chillon M, Nunes V, Casals T, Estivill X    1993-09-14
Institute Institut de Recerca Oncologica 
Submitted Phenotype Details Patient (M) is 9y, has PS, FEV1=114%, sweat-chloride levels >100mM/l. DeltaF508 was found on the other allele. (Pers. corr. Casals) 
Reference Chill√≥n et al. (NL#59) 

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The Database was last updated at Apr 25, 2011