Mutation Details for c.3067_3072delATAGTG

cDNA Name c.3067_3072delATAGTG 
Protein Name p.Ile1023_Val1024del 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3199del6 
Other Details This in-frame deletion was found associated with I148T on the same CF allele. This mutation was also reported by Wang et al.(12/11/98). It was detected by TTGE (Temporal Temperature Gel Electrophoresis) and identified by direct sequencing. 
Contributors Bozon D   1998-03-19
Institute Hopital Debrousse, Lyon, France 
Submitted Phenotype Details The mutation was identified in 2 patients, one of them being female, diagnosed at 1 year old, PI with sweat chloride 114mmol/l and her genotype is I148T,3199del6/deltaF508. (pers. corr. Bozon) The mutation was found in a 21 years old male CF patient diagnosed at 15 years of age. He is PI, FEV1 24% at age 22y, sweat chloride 102 mmol/l. He also has Diabetes melitus, Pseudomonas and E.coli colonization. (pers. corr. Alper and Wong et al. 2001)  
Reference Bozon (NL#70) 

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The Database was last updated at Apr 25, 2011