Mutation Details for c.2552G>T

cDNA Name c.2552G>T 
Protein Name p.Arg851Leu 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name R851L 
Other Details The above mutation was detected by DGGE and direct sequencing. It was detected in a CF carrier father who had 2 children, both died of CF. The maternal mutation is unknown. 
Contributors Casals T, Ramos M D, Gimenez J, Nunes V, Estivill X   1996-05-14
Institute IRO, Spain 
Submitted Phenotype Details Found in the father of 2 CF patients. Both patietns died, but they were probably homozygous for the R851l mutation. (Pers. corr. Casals) 
Reference Casals et al. (NL#68) 

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The Database was last updated at Apr 25, 2011