Mutation Details for c.164+3_164+4insT

cDNA Name c.164+3_164+4insT 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 296+3insT 
Other Details The mutation was found by SSCA and identified by direct DNA sequencing in two Spanish CF patients, both carriers of the [delta]F508 on the other CF chromosome. One of them, a women 27 years old, was diagnosed at 14, high sweat chloride (93), pancreatic sufficiency and moderate lung disease. She had a CF brother who died at 6 months.  
Contributors Casals T, Ramos M D, Jimenez J, Nunes V, Estivill X   1998-12-31
Institute IRO Barcelona, Spain 
Submitted Phenotype Details The mutation was identified in 2 CF patients. One is a 27 years old female, diagnosed at 14 years of age, PS with sweat chloride 93 mmol/l and moderate respiratory symptoms. She also carries deltaF508 (pers. corr. Casals) 
Reference Casals et al. 1998 

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The Database was last updated at Apr 25, 2011