Mutation Details for c.100_117delTTGTCAGACATATACCAA

Protein Name p.Leu34_Gln39del 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name 232del18 
Other Details The above mutation was detected by SSCA and direct sequencing in a patient from Brazil (Caucasian origin). He carries [delta]F508 on the other chromosome and he presents PI and mild lung disease. 
Contributors Faucz F, Raskin S, Casals T, Ramos MD, Gimenez J, Nunes V, Estivill X   1996-09-25
Institute Lab. Genetika, Curitiba, Brazil; IRO, Barcelona, Spain . 
Submitted Phenotype Details  
Reference Faucz et al. (NL#69) 

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The Database was last updated at Apr 25, 2011