Mutation Details for c.2835G>A

cDNA Name c.2835G>A 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 2967G/A 
Other Details We would like to report to the consortium one novel sequence variation located in exon 15 of the CFTR gene. This polymorphism S945S (TCG->TCA; 2967 G->A) was found by DGGE using chemical clamps and identified by direct sequencing. This nucleotide substitution destroys a Taql restriction site, like the S945L mutation. 
Contributors Bienvenu T, Borde P, Bousquet S, Herbulot C, Beldjord C   1996-09-19
Institute Laboratoire de Biochimie Génétique, Pavillon Cassini, Paris, France. 
Submitted Phenotype Details  
Reference Bienvenu et al. (NL#69) 

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The Database was last updated at Apr 25, 2011