Mutation Details for c.1270G>A

cDNA Name c.1270G>A 
Protein Name p.Gly424Ser 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name G424S 
Other Details This sequence variation was detected by DGGE and identified by direct sequencing. This missense mutation was not found in 100 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. This mutation was observed in a male subject with bronchiectasis. The other mutation is unknown. 
Contributors Bienvenu T, Bousquet S, Puechal X, Berthelot J M, Beldjord C   2000-01-07
Institute Laboratoire de Biochimie Génétique Groupe Hôspitalier Cochin, France 
Submitted Phenotype Details The patients (female)is PS, has bronchiectasis and carries 3041-71G/C on the other allele. (pers. corr. Bienvenu) 
Reference Bienvenu et al. 2000 

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The Database was last updated at Apr 25, 2011