Mutation Details for c.675T>A

cDNA Name c.675T>A 
Protein Name p.Cys225X 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name C225X 
Other Details No further description. 
Contributors Mercier B   1996-08-07
Institute √Čtablissement de Transfusion Sanguine de Bretagne Occidentale, Brest, France 
Submitted Phenotype Details The mutation was identified in a French CF patient (female, 6y) diagnosed at birth. Her sweat chloride was 50-55 mmol/l. She carries deltaF508 on the other allele. (pers. corr. Ferec) 
Reference Mercier B (NL#69) 

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The Database was last updated at Apr 25, 2011