Mutation Details for c.473_474insT

cDNA Name c.473_474insT 
Protein Name p.Leu159PhefsX4 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 605insT 
Other Details The 605 ins T mutation was detected in a 10 year old Slovak male CF patient. This mutation was compunded with the [delta]F508 mutation. No clinical information is available to us on this patient.  
Contributors Mackova A, Macek MJr, Cutting GR   1994-10-18
Institute Center for Medical Genetics Baltimore, MD, USA 
Submitted Phenotype Details One patient (21y, male) was diagnosed at 8m with CF. He is PI, has moderate lung disease (FEV1=58%), sweat chloride 89.7-116.4 mmol/l. From the clinical history: bronchiectasis, rec. bronchitis,Staph Aureus colonization, failure to thrive from 1m to 10y, DIOS at 3y,IGT at 11y, CFRDM at 18y, nasal poliposis, chronic sinusitis, no liver disease, but LFT decline lately. (pers. corr. Kayserova) 
Reference Mackova et al. (NL#64) 

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The Database was last updated at Apr 25, 2011