Mutation Details for c.2932A>T

cDNA Name c.2932A>T 
Protein Name p.Lys978X 
Exon or Intron exon 18 
Other Details This mutation was identified in two female siblings with CF.  
Contributors and Institutes
Darci Ferrer - Johns Hopkins University
Kathleen Naughton - Johns Hopkins University
Garry Cutting - Johns Hopkins University
Submitted Phenotype Details The sisters (ages 15 and 16) were diagnosed at ages 4 months and 1.5 months, respectively. The elder sister has a sweat chloride of 117 mmol/l and is taking pancreatic enzymes. She was born at 32 weeks gestation at a local hospital but was subsequently sent to a children’s hospital for “CF testing” on day of life 3, which corroborates the indication of meconium ileus in the US Cystic Fibrosis Registry. At age 4 she developed a Staphylococcus aureus infection and at age 7, Pseudomonas aeruginosa. Her most recent FEV1 was 2.68 L (90% predicted). She is 168 cm tall and weighs 63 kg. The younger sister has a sweat chloride of 101 mmol/l and is also on pancreatic enzymes. She was diagnosed with Staphylococcus aureus at age 6, Pseudomonas aeruginosa at age 11, and MRSA at age 14. Her most recent FEV1 was 2.83 L (86% predicted). She is 167 cm tall and weighs 55 kg. Both have mutation [delta]F508.  

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The Database was last updated at Apr 25, 2011