Mutation Details for c.433delC

cDNA Name c.433delC 
Protein Name p.Leu145PhefsX8 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 565delC 
Other Details Patient was from Brazil and of Afro-American origin. The 565delC mutation was detected by SSCA and direct sequencing. The patient also carries mutation P5 (?) and he is PI with mild lung disease. 
Contributors Casals T, Ramos MD, Gimenez J, Nunes V, Estivill X. Faucz F, Raskin S.   1996-07-19
Institute IRO, Spain. Lab. Genetika, Brazil 
Submitted Phenotype Details The mutation was identified in a male patient, PS, with mild pulmonary symptoms and P5L on the other allele. (pers. corr. Casals) 
Reference Casals et al. (NL#69) 

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The Database was last updated at Apr 25, 2011