Mutation Details for c.4367G>A

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

cDNA Name c.4367G>A 
Protein Name p.Ser1456Asn 
Exon or Intron  
Other Details  
Contributors and Institutes
Krenkova P., Macek Jr. M - Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic -
  
Submitted Phenotype Details Found at CF patient's healthy father and sibling carrying on the second allele p.Ser1455X and p.Phe508del, respectively. This variant produced no phenotype manifestation.  
Reference  

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The Database was last updated at Apr 25, 2011