Mutation Details for c.44T>C

cDNA Name c.44T>C 
Protein Name p.Leu15Pro 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name L15P 
Other Details This change has been detected by SSCP/HD analysis and direct sequencing in one CF allele from Ecuador 
Contributors J. Gimenez, MD. Ramos, H. Escobar, T. Casals   2004-12-29
Institute CGMM-IRO. Barcelona. Spain Hospital Ramon y Cajal. Madrid. Spain  
Submitted Phenotype Details Patient is a boy, 7 years old, with bilateral chronic sinus pathology; pancreatic sufficient and sweat test 135 mmol/L. He presents the genotype [G85E] + [L15P] (pers. corr. T. Casals)  

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011