Mutation Details for c.1079C>G

cDNA Name c.1079C>G 
Protein Name p.Thr360Arg 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name T360R 
Other Details This sequence change was found on a CF chromosome also bearing [delta]F508 but it was found only once out of 1460 CF chromosomes screened.(Original Note Chevalier-Porst et al., 13 July 1998) NL#70 The mutatioan was also identified by Ferec et al. in a CF patient and reported on 23 December 1998. 
Contributors Chevalier-Porst F, Bozon D   1998-07-13
Institute Biochimie, Bat D, Hopital Debrousse, Lyon, France 
Submitted Phenotype Details The mutation was identified in a CF patient, diagnosed at birth, carrying deltaF508 on the other allele. (pers. corr. Ferec) 
Reference Chevalier-Porst & Bozon (NL#70) 

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The Database was last updated at Apr 25, 2011