Mutation Details for c.926C>G

cDNA Name c.926C>G 
Protein Name p.Ala309Gly 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name A309G 
Other Details The above mutation was detected by DGGE using chemical clamps and identified by direct sequencing. It is not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. The patient is from Reunion Island. 
Contributors Bienvenu T, Bousquet S, Herbulot C, Beldjord C, Kaplan J C   1996-02-23
Institute Laboratoire de Biochimie Génétique, Groupe Hôspitalier Cochin, France 
Submitted Phenotype Details (Cartault et all 1998 and pers.corr. Bienvenu) One patient, female, 75 yrs old, diagnosed at 70, with mild pulmonary disease, chronic cough, bronchiectasis, sweat chloride 106 mEq/l. 
Reference Bienvenu et al. (NL#68) 

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The Database was last updated at Apr 25, 2011