Mutation Details for c.415_416insTA

cDNA Name c.415_416insTA 
Protein Name p.His139LeufsX15 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 547insTA 
Other Details The mutation 547insTA was detected in a PS patient with chronic cough, S-K: 85, CXR: 20. Age at diagnosis: 1 month; chloride sweat test: 93 mEq/L; the mutation on the other chromosome is unknown. Father is Russian (Kazakstan) and mother is Greek, but the inheritance of 547insTA has not been determined. The sequence alteration above was found once in 500 chromosomes screened. 
Contributors Tzetis M, Antoniadi Th, Kanavakis E   1996-02-21
Institute First Department of Pediatrics, Athens University, Greece 
Submitted Phenotype Details The patient (female, 10 years) was diagnosed at 1 month of age. She is PS, has mild respiratory symptoms with chronic cough and sweat chloride 93 mmol/l. She also carries 2789+4G->A. (pers. corr. Tzetis) 
Reference Tzetis et al. (NL#68) 

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The Database was last updated at Apr 25, 2011