Mutation Details for c.19G>T

cDNA Name c.19G>T 
Protein Name p.Glu7X 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name E7X 
Other Details Two novel mutations in a Taiwanese cystic fibrosis and a survey of East Asian CFTR mutations. 
Contributors Alper Özgül, Wong LJC   2002-01-01
Institute Molecular Diagnostic Laboratory, Institute of Molecular and Human Genetics, Georgetown University Medical Center 
Submitted Phenotype Details The Asian patient (male, died at 1.5 years old) has severe CF. He presented with meconium ileus at birth, has severe lung disease with Pseudomonas Aeruginosa and Staph. Aureus infections. The pancreatic status in not available. He has hepatomegaly. He carries the 989-992insA mutation on the other allele. 
Reference Am JMed Genet 120A (2):296-298,2003 

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The Database was last updated at Apr 25, 2011