Protein Name p.Leu953PhefsX11 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 2991del32 
Other Details The German CF patient is heterozygous for [delta]F508 and suffers from a very severe course of disease including pancreatic, pulmonary and hepatobiliary symptoms. The deletion is easily available on NuSieve agarose gels. 
Contributors Dork T, Tummler B   1992-06-08
Institute Medizinsiche Hochschule Hannover Hannova, Germany 
Submitted Phenotype Details The patient (male, 16) was diagnosed with CF at birth, with meconium ileus.. He is PI, has severe lung disease (FEV1 36%) and carries DelF508 on the other allele. (Doerk et all 1994 and pers. corr. Doerk) 
Reference Dörk et al. 1994c 

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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.

  • Dork T, Will K, Grade K, Krawczak M, Tummler B   A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.   1994;4(1):65-70

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The Database was last updated at Apr 25, 2011