Mutation Details for c.2522C>G

cDNA Name c.2522C>G 
Protein Name p.Pro841Arg 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name P841R 
Other Details The P841R mutation was detected in the CFTR gene by DGGE and identified by direct sequencing. This mutation has been found in an infertile man with CBAVD carrying the R74W+D1270N mutations on the other allele 
Contributors Kitzis A.,Chomel J-C.,Baudis M., Crevaux I.   2000-12-21
Institute Laboratoire de Génétique Cellulaire et Moléculaire, CHU de Poitiers, France 
Submitted Phenotype Details the mutation was found in a male patient (35 years old) with CBAVD, carrying R74W and D1270N on the other allele. 

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The Database was last updated at Apr 25, 2011