Mutation Details for c.1397C>T

cDNA Name c.1397C>T 
Protein Name p.Ser466Leu 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name S466L 
Other Details The above mutation was detected by DGGE and identified by direct sequencing in an infertile man with isolated CBAVD. 
Contributors Costes B, Ghanem N, Girodon E, Goossens M   1995-04-04
Institute Institut National de la Sante et de la Recherche Medicale 
Submitted Phenotype Details S466L was found in a 37y M patients diagnosed at >30y with CBAVD, PS, with mild pulmonary symptoms (chronic bronchitis), also carrying deltaF508 on the other allele.(pers. corr. Girodon)  
Reference Costes et al. (NL#66) 

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The Database was last updated at Apr 25, 2011