Mutation Details for c.1738G>A

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

cDNA Name c.1738G>A 
Protein Name p.Val580Ile 
Exon or Intron  
Other Details Variant found by NGS CFTR Devyser, confirmed with sanger sequencing. 
Contributors and Institutes
mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague Czech Republic, Dr. Iustina Stan: - NSMC Alessandrescu Rusescu, Bucharest, Romania, Prof. Milan Macek,Faculty Hospital Motol, Prague Czech Republic
Submitted Phenotype Details Romanian patient-sweat test 64mmol/l. With c.254G>A on the second allele. 

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The Database was last updated at Apr 25, 2011