Mutation Details for c.147A>G

cDNA Name c.147A>G 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name 279A/G 
Other Details We would like to report to the consortium one novel mutation located in exon 20 of the CFTR gene and one novel sequence variation located in exon 2 of the CFTR gene. The missense mutation was detected by DGGE and identified by direct sequencing. The mutation S1255L (C->T at 3896) is not found in 200 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. Two other CF mutations have been identified at the same codon 
Contributors Bienvenu T, Bousquet S, Beldjord C   1996-12-12
Institute Laboratoire de Biochimie et Génétique Moléculaire Paris, France 
Submitted Phenotype Details  
Reference Bienvenu et al. (NL#69) 

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