Mutation Details for c.2057C>A

cDNA Name c.2057C>A 
Protein Name p.Ser686Tyr 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name S686Y 
Other Details  
Contributors Angius A, Bitetti M, Furbetta M.    2006-05-12
Institute Pediatria, Laboratorio di Genetica Molecolare, Universit√† degli Studi di Perugia, Italy. 
Submitted Phenotype Details This mutation was identified in a adult Italian man with asthenospermia studied for couple?s infertility. The above mutation was detected by DGGE analysis and confirmed by DNA sequencing.  
Reference  

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