Mutation Details for c.4272C>G

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

cDNA Name c.4272C>G 
Protein Name p.Tyr1424X 
Exon or Intron  
Other Details  
Contributors and Institutes
Lenka Dvorakova, Malgorzata Libik, Andrea Holubova - Department of Biology and Medical Genetics,University Hospital Motol, Prague, Czech Republic
Submitted Phenotype Details Patient with positive newborn screening for cystic fibrosis. Positive sweat test. 

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The Database was last updated at Apr 25, 2011