Mutation Details for c.-4G>C

cDNA Name c.-4G>C 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name 129G/C 
Other Details C in strong association with R117H. 
Contributors Markiewicz D, Bozon D, Zielenski J, Tsui LC   1992-02-18
Institute The Hospital for Sick Children Toront, ON, Canada 
Submitted Phenotype Details  
Reference Zielenski et al. 1991b;Markiewicz et al. (NL#42) 

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