Mutation Details for c.3971T>C

cDNA Name c.3971T>C 
Protein Name p.Leu1324Pro 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name L1324P 
Other Details The patient is from Madagascar. 
Contributors E. Girodon, F. Niel, C. Costa, M. Goossens   2004-01-21
Institute Biochimie-GŽnŽtique, h™pital Henri-Mondor, CrŽteil, France 
Submitted Phenotype Details This mutation was identified in trans with N1303K in a 26 yrs old male known as a CF patient since early childhood because of a family history (a CF brother). His phenotype was moderate with episodes of bronchitis but worsened since youth, with broncho-pulmonary infections and diabetis. He appears to be fertile.  

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