Mutation Details for c.857_858insA

cDNA Name c.857_858insA 
Protein Name p.Asn287LysfsX21 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name 989-992insA 
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, 2 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 E7X 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