Mutation Details for c.2672A>G

cDNA Name c.2672A>G 
Protein Name p.Asp891Gly 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name D891G 
Other Details The mutation was detected by DGGE and DNA sequencing. It was observed on one allele of an adult male with only azoospermia. DGGE primers were generously supplied by the European Community Concerted Action for the Coordination of Cystic Fibrosis Research and Therapy. 
Contributors Kilinc O, Tolun A   1998-11-06
Institute Bogazici University, Department of Molecular Biology and Genetics, Istanbul, turkey 
Submitted Phenotype Details Tha patient (male)is PI, has moderate lung disease. He carries the 5T mutation on the other allele. The mutation was also identified in azoospermic sons. (pers. corr. Kilinc) 
Reference Kilinc et al. (NL#70) 

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The Database was last updated at Apr 25, 2011