Mutation Details for c.4243-2A>C

cDNA Name c.4243-2A>C 
Exon or Intron intron 26 
Legacy Exon or Intron intron 23 
Legacy Name 4375-2A->C 
Other Details This mutation was identified by direct sequencing. It was found in a Slovak CF patient with typical CF symptoms. The other mutation remains unknown. 
Contributors S-M Tang, L-C Tsui,J Zielenski,J Orosova   2002-11-01
Institute The Hospital for sick children 
Submitted Phenotype Details  
Reference  

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