Mutation Details for c.1911delG

cDNA Name c.1911delG 
Protein Name p.Gln637HisfsX26 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2043delG 
Other Details This mutation, associated with haplotype B, also creates a stop codon (TAA) 25 codons therafter. 
Contributors Fanen P, Ghanem N, Goossens M   1991-07-19
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details The 2043delG mutation was found in 2 patients, 23+18y, carrying deltaF508 on the other allele, both PI with severe lung disease, havin associated rectal prolapse and diabetes.(pers. corr. Girodon) 
Reference Fanen et al. 1992 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

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