Mutation Details for c.53G>T

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

cDNA Name c.53G>T 
Protein Name p.Ser18Ile 
Exon or Intron  
Other Details  
Contributors and Institutes
Mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr.Minira Bulgenova and Dr. Gulnara Svjatova–Pediatric Clinic – Medical Genetics Centre, Almaty, Prof. Milan Macek-Faculty Hospital Motol, Prague, Czech Republic -
Submitted Phenotype Details Mutation found in 7 years old patient from Kazakhstan. Sweat test 117mmol/L, steatorhea, cough, F508del on the second alelle. 

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The Database was last updated at Apr 25, 2011