Mutation Details for c.1381G>A

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

cDNA Name c.1381G>A 
Protein Name p.Gly461Arg 
Exon or Intron  
Other Details  
Contributors and Institutes
Maria D. Ramos, Teresa Casals - Human Molecular Genetics Group
Bellvitge Biomedical Research Institute (IDIBELL) - Barcelona. Spain
Submitted Phenotype Details CF patient 41 years old, diagnosed at 8y., chloride sweat concentration 105mmol/L, pancreatic insufficient, lung disease, ABPA.  

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The Database was last updated at Apr 25, 2011