Mutation Details for c.3181G>C

cDNA Name c.3181G>C 
Protein Name p.Gly1061Arg 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name G1061R 
Other Details This mutation has been found in one among 50 non-[delta]F508 Cf chromosomes. Another substitution G->C at the same position has been already described by Mercier and colleagues (1993) 
Contributors Bienvenu T, Cazeneuve C, Tcherkoff L, Kaplan JC, Beldjord    1994-06-22
Institute Hopitaux de Paris Paris, Franc 
Submitted Phenotype Details One patient (female, 10) diagnosed at 6 with CF, is PI, has severe lung disease with Pseudomonas aeruginosa colonization, sweat chloride 78 mmol/m. She carries delF508 on the other allele. (pers. corr. Mercier) One French CF patient carries K14X on the other allele. (pers. corr. Ferec) 
Reference Mercier et al. 1993b 

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The Database was last updated at Apr 25, 2011