Mutation Details for c.3758T>C

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

cDNA Name c.3758T>C 
Protein Name p.Leu1253Ser 
Exon or Intron  
Other Details  
Contributors and Institutes
Mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Simona Mosescu: Pediatrics Department, Bucharest Univ., Prof. Milan Macek-Faculty Hospital Motol, Prague, Czech Republic -
  
Submitted Phenotype Details Romanian patients born 2005, F508del on the second allele 
Reference  

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The Database was last updated at Apr 25, 2011