Mutation Details for c.264_268delATATT

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.264_268delATATT 
Protein Name p.Leu88PhefsX21 
Exon or Intron exon 3 
Other Details  
Contributors and Institutes
N.V.Petrova, T.A.Vasilyeva, Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Russian Academy of Medical Scienses -
Submitted Phenotype Details This mutation was first detected by heteroduplexes on PAGE, the identified by direct sequencing. This 5-bp deletion leads to a chain termination codon downstream in exon 4. It was present in one CF chromosome only, in a patient,female 6 months old, from Moscow, Russia (2000 CF chromosomes analyzed).  

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The Database was last updated at Apr 25, 2011