Mutation Details for c.4243-1g>T

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.4243-1g>T 
Exon or Intron  
Other Details  
Contributors and Institutes
mgr. Malgorzata Libik- Faculty Hospital MOtol, Prague, Czech Republic, PhD, Dr. Guergana Petrova – Alexandrovska University Hospital and Dr. Alexey Savov– Medical Genetics, Sofia, Prof. Milan Macek-Faculty Hospital MOtol, Prague, Czech Republic -
Submitted Phenotype Details Bulgarian patient, sweat test 80 mmol/l Cl, F508del on the second allele. 

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The Database was last updated at Apr 25, 2011