Mutation Details for c.2012delT

cDNA Name c.2012delT 
Protein Name p.Leu671X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2143delT 
Other Details In exon 13 we identified a deletion of a single T residue at nucleotide position 2143 or 2144 (2143delT). The deletion was found in four independant German CF patients who are compound heterozygotes for [delta]F508 or G551D, respectively. The patients exhibit moderate degree of steatorrhea, pathological sweat test values below 100 mval/L Cl and suffer 68 non-[delta]F508 CF chromosomes. We can provide a mimatch primer to those members who are interested in screening this mutation. The 2143delT allels carry haplotype B together with six GATT repeats. 
Contributors Kalin N, Dork T, Tummler B   1992-01-02
Institute Medizinische Hochschule Hannover 
Phenotype Information CFTR2
Reference Dörk et al. 1992b 

To check if there are any papers published about this mutation/variant on PubMed, please click here.
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, Kalin N, Stuhrmann M, Schmidtke J, Tummler B   A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.   1992 011;90(3):279-84
  • Petrova NV, Kapranov NI, Ginter EK   [Detection of frequent mutations of the CFTR gene in cystic fibrosis patients from Central Russia].   1997 001;33(1):106-9

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011