Mutation Details for c.869+4A>C;c.861_865delCTTAA

cDNA Name c.869+4A>C;c.861_865delCTTAA 
Protein Name p.Asn287LysfsX21 
Exon or Intron intron 7 
Legacy Exon or Intron intron 6b 
Legacy Name 1001+4A->C+993delCTTAA 
Other Details For the 993delCTTAA also see 991del5 reported by Leoni in 1996. 
Contributors Ferec C.   2002-01-01
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French female CF patient (4y) was diagnosed at 1 year of age. Her sweat chloride was 150 mmol/l and she had recurrent respiratory symptoms. (pers. corr. Ferec) 

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The Database was last updated at Apr 25, 2011