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 

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.

  • 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

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