Mutation Details for c.3038C>T

cDNA Name c.3038C>T 
Protein Name p.Pro1013Leu 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name P1013L 
Other Details The mutation was detected by heteroduplex analysis. It was found in a Turkish CF patient. The second mutation: unknown. 
Contributors Onay T, Kirdar B, Zielenski J, Markiewicz D, Tsui L-C   1996-10-07
Institute Bogazici University, Istanbul, Turkey The Hospital for Sick Children, Toronto, Canada 
Submitted Phenotype Details The mutation was found in a CF patient carrying 2752-15C->G on the other allele, sweat chloride 65 mmol/l. (Onay et al. 1998) P1013L (3170C>T)was found in a 52y female, PS, with moderate lung disease (disseminated bronchiectasis, rhinosinusitis, sarcoidosis), negative sweat chloride and infertility. (pers. corr. Girodon)  
Reference Onay et al. (NL#69) 

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The Database was last updated at Apr 25, 2011