Mutation Details for c.4042delC

cDNA Name c.4042delC 
Protein Name p.His1348MetfsX6 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name 4173delC 
Other Details A new mutation was detected in the CFTR gene by heteroduplex-MDE analysis. The frameshift mutation (4173delC) in exon 22 of the CFTR gene. The mutation was detected by heteroduplex analysis of DNA amplified by PCR with exon 22 specific primers (22i-5, 5'-AAACGCTGAGCCTCACAAGA-3' and 22i-3, 5'-TGTCACCATGAAGCAGGCAT-3'). Sequencing analysis showed deletion of C at the position 4173. The 4173delC allele was found on one of the chromosomes of a CBAVD patient. 
Contributors Zielinski J, Markiewicz D, Tsui LC   1994-05-26
Institute Hospital For Sick Children Toronto, Canada 
Submitted Phenotype Details No additional clinical data available. See original note. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#62) 

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