Mutation Details for c.1152delA

cDNA Name c.1152delA 
Protein Name p.Glu384AspfsX4 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name 1283delA 
Other Details The above mutation was detected by DGGE using chemical clamps and identified by direct sequencing. It is not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. The patient has [delta]F508 on the other chromosome, a pancreatic deficiency and lung disease. 
Contributors Bienvenu T, Bousquet S, Beldjord C, Kaplan J C   1995-08-07
Institute Groupe Hôspitalier Cochin, Paris 
Submitted Phenotype Details The male CF patient was diagnosed at 3 months of age. He carries deltaF508 on the other allele. (pers. corr. Bienvenu) 
Reference Bienvenu et al (NL#67) 

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The Database was last updated at Apr 25, 2011