Mutation Details for c.1707T>A

cDNA Name c.1707T>A 
Protein Name p.Tyr569X 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name Y569X 
Other Details This mutation was identified by DGGE and direct sequencing in a patient of French origin, who is 9 yeras old, pancreatic insufficient and severely affected. The other chromosome carries the [delta]F508 mutation. 
Contributors Ferec C, Quere I, Audrezet MP, Verlingue C, Raguenes O, Guillermit H, Mercier B   1993-03-22
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient (female, 18y) was diagnosed at 1year of age. She is PI, has positive sweat chloride and carries deltaF508 on the other allele. (pers. corr. Ferec) 
Reference FĂ©rec et al. (NL#54) 

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