Mutation Details for c.2700T>A

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

cDNA Name c.2700T>A 
Protein Name p.Asn900Lys 
Exon or Intron  
Other Details  
Contributors and Institutes
Instituto Venezolano de Investigaciones Cientificas -
Submitted Phenotype Details It changes an asparagine to a lysine at amino acid 900 of the protein. This mutation was found in a third generation Venezuelan female patient carrying the WT allele on the other chromosome. The patient has a confused phenotype with late onset of disease (11 years old), but has low body weight. She has had two border line sweat chloride tests (40 and 39 mmol/L). 
Reference in press 

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The Database was last updated at Apr 25, 2011