Mutation Details for c.164+1G>C

cDNA Name c.164+1G>C 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 296+1G->C 
Other Details A new mutation was found in intron 2 of the CFTR gene. The sequence change is G->C substitution at nucleotide 296+1 affecting the splicing process. (296+1 G->C). This mutation has been found in one out of 372 CF chromosomes of Greek origin. 
Contributors Tzetis M, Andoniadi T, Kanavakis M, Synodinas-Traeger J, Casals T   1994-10-31
Institute St. Sophia's Children's Hospital Athens, Greece 
Submitted Phenotype Details The male CF patient (33y) was diagnosed at 27 years of age. He is PI, has sweat chloride 93.1 mmol/l, FEV1 133% and Pseudomonas Aeruginosa infections. He carries 3120+1G->A on the other allele.(Tzetis et al. 2001) 
Reference Tzetis et al. (NL#64) 

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