Mutation Details for c.4197C>G

cDNA Name c.4197C>G 
Protein Name p.Leu1399Leu 
Exon or Intron exon 26 
Other Details This sequence variation has not been observed on over 1000 CFTR genes. 
Contributors and Institutes
Angius A. - Sez. Clinica di Pediatria Medica e Chirurgica, Lab. Genetica Molecolare, Università degli Studi di Perugia, Italy
Stasi M. - Sez. Clinica di Pediatria Medica e Chirurgica, Lab. Genetica Molecolare, Università degli Studi di Perugia, Italy
Bitetti M. - Sez. Clinica di Pediatria Medica e Chirurgica, Lab. Genetica Molecolare, Università degli Studi di Perugia, Italy
Furbetta M. - Sez. Clinica di Pediatria Medica e Chirurgica, Lab. Genetica Molecolare, Università degli Studi di Perugia, Italy
  
Submitted Phenotype Details This sequence variation was found in a 47 years old male from Camerum who was studied for couple’s infertility. He had a normal semen analysis. (detected by DGGE analysis and confirmed by 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