Mutation Details for c.2909-15T>G

cDNA Name c.2909-15T>G 
Exon or Intron intron 17 
Legacy Exon or Intron intron 15 
Legacy Name 3041-15T->G 
Other Details This mutation was detected in the homozygous state in a Turkish CBAVD patient. 
Contributors Dayangac D, Erdem H, Özgüc M, Dörk T   2001-10-21
Institute Dept. of Medical Biology Hacettepe University, Sihhiye, Turkey 
Submitted Phenotype Details The homozygous patient (male, 42y) was diagnosed with CBAVD.(pers. corr. Dayangac) 
Reference Dayangac et al. 2001 

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