Mutation Details for c.380T>G

cDNA Name c.380T>G 
Protein Name p.Leu127X 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name L127X 
Other Details The above mutation was found once by DGGE and DNA sequencing. 
Contributors Férec C, Verlingue C, Mercier B, Quere I   1995-12-27
Institute Centre de Transfusion Sanguine et de Biogénétique, Brest, France 
Submitted Phenotype Details The Tunisian CF patient is homozygous for L127X. (pers. corr. Ferec) 
Reference Férec et al. (NL#67) 

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