Mutation Details for c.972C>G

cDNA Name c.972C>G 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1104(C/G) 
Other Details This polymorphism was identified by SCP and direct sequencing in both directions. It was observed in a mother of four deceased CF patients of Albanian origin, but not among 69 non-[delta]F508 CF and 12 normal chromosomes. 
Contributors Petreska L, Koceva S, Efremov GD   1994-04-19
Institute Macedonian Academy of Sciences and Arts Skopje, Republic of Macedonia 
Submitted Phenotype Details  
Reference Petreska 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