Mutation Details for c.1365_1366delGG

cDNA Name c.1365_1366delGG 
Protein Name p.Val456CysfsX25 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name 1497delGG 
Other Details  
Contributors Tzetis M.,   2002-01-01
Institute Department of Medical Genetics University of Athens St Sophia's Children's Hospital 
Submitted Phenotype Details The male patient was diagnosed when 3 years old. He is PI, has sweat chloride 109 mmol/l and carries 3120+1G>A on the other allele. (pers.corr. Tzetis) 

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The Database was last updated at Apr 25, 2011