Mutation Details for c.2724C>T

cDNA Name c.2724C>T 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 2856C/T 
Other Details The T variant was found by DGGE and identified by DNA sequencing in a French patient suspected of CF. The new sequence destroys a HphI site.(Original note Claustres et al. 1997-12-01) NL#70 The polymorphism was also reported by Bozon D (1998-03-19). No further information available. NL#70 
Contributors Claustres M, Guittard C, Des George M, Carles S   1997-12-01
Institute Institut de Biologie, Montpellier, France 
Submitted Phenotype Details No clinical information available. 
Reference Claustres et al. (NL#70) 

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