Mutation Details for c.803delA

cDNA Name c.803delA 
Protein Name p.Asn268IlefsX17 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name 935delA 
Other Details This mutation was detected by temporal temperature gel electrophoresis (TTGE) and identified by sequencing. 
Contributors Wang JJ Wong LJC   1998-12-31
Institute Molecular Diagnostic Laboratory, Institute of Molecular and Human Genetics, Georgetown University Medical Center 
Submitted Phenotype Details 2 patients with this mutation were described: -one carried 663delT on the other allele, diagnosed in infancy, after meconium ileus, died at 4 years of age. She had sweat chloride 114 mmol/l, was PI, and had PA and Staph Aureus infections. -one carried deltaF508 on the other allele, was 8 years old male at the time of genetic analysis, diagnosed at 2 weeks of age for meconium ileus, PI, with FEV1 97% and sweat chloride 103 mmol/l, had Pseudomonas Aeruginosa and Staph. Aureus infections and liver disease.( pers. corr. Alper and Wang et al. 2000) The 935delA mutation is described as associated with severe course of CF - Wong et al. 2001  
Reference Wang 1998 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

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The Database was last updated at Apr 25, 2011