Mutation Details for c.2756A>G

cDNA Name c.2756A>G 
Protein Name p.Tyr919Cys 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name Y919C 
Other Details This mutation was identified by DGGE and direct sequencing. The mutation was found on one Bulgarian CF chromosome. 
Contributors Kalaydjieva L, Savov A, Angelitcheva D, Ferec C, Quere I, Audrezet MP, Mercier B   1993-03-23
Institute Centre de Transfusion Snaguine et de Biogenetique Brest, France 
Submitted Phenotype Details Savov et all is reporting Y919C as a polymorphism. (pers. corr. Savov) 
Reference Savov et al. 1994a 

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