Mutation Details for c.182T>C

cDNA Name c.182T>C 
Protein Name p.Leu61Pro 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name L61P 
Other Details This mutation was identified on one Hispanic CF chromosome 
Contributors Stark JM, Jon C, Schecter M, Colasurdo GN   2005-04-15
Institute University of Texas Health Science Center - Houston Department of Pediatrics, Division of Pulmonary and Critical Care Medicine 
Submitted Phenotype Details 9 y/o Hispanic boy with history of asthma since 1 year of age. Sweat Chloride 87 and 85. Repeat sweat chloride 82 and 65. CT chest without bronchiectasis. No symptoms of pancreatic insufficiency. Other mutation ? R117C (C to T at position 481 in exon 4) Other polymorphyisms ? M470V in exon 10 ( Methionine to valine at position 470) and 2694 T>G in exon 14a (no AA change at position 854). 

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