Mutation Details for c.4197C>G

cDNA Name c.4197C>G 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name 4329C/G 
Other Details This sequence variation has not been observed on over 1000 CFTR genes. 
Contributors Angius A., Stasi M., Bitetti M., Furbetta M.   2008-06-03
Institute 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)  

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The Database was last updated at Apr 25, 2011