Mutation Details for c.2156T>A

cDNA Name c.2156T>A 
Protein Name p.Leu719X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name L719X 
Other Details L719X a T->A transversion at nucleotide position 2288 in exon 13 is a nonsense mutation detected in a German PI patient who is heterozygous for [delta]F508. The L719X allele carries the haplotype 1-2-2-1 (XV2c-KM19-D9-J44) with seven GATT repeats 
Contributors Dork T, Kalin N, Tummler B   1992-04-13
Institute Medizinische Hochschule Hannover 
Submitted Phenotype Details The patient (female, 4y) was diagnosed with CF at birth; she is PI, has PI colonization and carries delF508 on the other allele. (pers. corr. Doerk) 
Reference Dörk et al. 1994b 

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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.

  • Will K, Dork T, Stuhrmann M, von der Hardt H, Ellemunter H, Tummler B, Schmidtke J   Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.   1995;5(3):210-20




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The Database was last updated at Apr 25, 2011