Mutation Details for c.1392G>T

cDNA Name c.1392G>T 
Protein Name p.Lys464Asn 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name K464N 
Other Details This mutation was identified in one CF patient carrying the 3659delC mutation on the other chromosome. No other mutation was detected after a wide CFTR gene mutation screening (27 exons and intronic boundaries) by DHPLC methodology. 
Contributors Bieth E., Gaston V., Gautry P.    2003-09-18
Institute Laboratoire de GŽnŽtique MŽdicale; H™pital Purpan; CHU de Toulouse (France) 
Submitted Phenotype Details The patient (French origin) was a newborn child referred for elevated immunoreactive trypsinogen (newborn screening) and positive sweat test (Cl- > 100 mEq/l). At age 6 months he expressed a severe phenotype with pancreatic insufficiency, chronic cough and bronchial infection (H. influenzae and S. aureus). 

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The Database was last updated at Apr 25, 2011