Mutation Details for c.95T>C

cDNA Name c.95T>C 
Protein Name p.Leu32Pro 
Exon or Intron exon 2 
Other Details Name in accordance with the standard nomenclature guidelines (HGVS): c.95T>C 
Contributors and Institutes error reading database  
Submitted Phenotype Details This missense mutation was identified in trans of Phe508del by direct sequencing in a 3 yo. patient with nasal polyposis and positive sweat test (108/117 mmol/L). No symptoms of classical CF were observed (no pancreatic insufficiency and no lung problems) 

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