Mutation Details for c.1526G>A

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

cDNA Name c.1526G>A 
Protein Name p.Gly509Asp 
Exon or Intron  
Other Details  
Contributors and Institutes
Nikola Ptakova, 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. Sweat test 28... 29 mmol/l. CF-SPID. Noncompliant family. 

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The Database was last updated at Apr 25, 2011