Mutation Details for c.302T>G

cDNA Name c.302T>G 
Protein Name p.Leu101X 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name L101X 
Other Details The L101X mutation was detected by SSCA and direct sequencing in a Polish CF patient. She is 18 years old and she carries a [delta]F508 on the other chromosome. She presents PI and lung disease with Pseudomonas colonization. 
Contributors Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X, Bal J   1996-08-20
Institute IRO, Barcelona, Spain; National Research Institute, Warsaw, Poland. 
Submitted Phenotype Details The mutation was found in a 18-year old female diagnosed with CF at 2 months of age, also carrying delF508 on the other allele. She is PI has lung disease with PA colonization and sweat chloride of 97mM/l. She also has diabetes. (pers. corr. Casals) 
Reference Casals et al. (NL#69) 

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The Database was last updated at Apr 25, 2011