Mutation Details for c.3873+1G>A

cDNA Name c.3873+1G>A 
Exon or Intron intron 23 
Legacy Exon or Intron intron 20 
Legacy Name 4005+1G->A 
Other Details The mutation was observed on two CF chromosomes (B haplotypes of Celtic origin) among 87 chromosomes tested through DGGE and DNA sequencing. The G->A nucleotide change destroys a HpnI site leading to the following pattern on digestion on the PCR product from the mutated allele (405bp +68 bp). The two affected children are compound heterozygotes. The first is 22 years old, PI with cirrhosis. He carries the [delta]F508 on the other chromosome. It is a severe form of the disease. The second child is 6 years old, PI, the other chromosome carries an unidentified mutation. 
Contributors Ferec C, Quere I, Guillermit H, Verlingue V   1991-06-26
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Phenotype Information CFTR2
Reference FĂ©rec 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