Mutation Details for c.202A>G

cDNA Name c.202A>G 
Protein Name p.Lys68Glu 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name K68E 
Other Details This mutation was found in a male Turkish patient (first reported Aug 4, 1997). His sweat chloride was 60 meq/l and showed lung disease at age of 26 months. His other CF mutation was later reported to be 406+3T->C (on March 23, 1998). 
Contributors Kilinc O, Ankan Z, Altmos S, Tolun A    1997-08-12
Institute Bogazici University Istanbul, Turkey 
Submitted Phenotype Details The patient (12, male) was diagnosed at 14 months, is PS, has mild lung disease and sweat chloride 60 mmol/l. He carries 406-3T->C on the other allele. (pers. corr. Kilinc) 
Reference Kilinc et al. (NL#70) 

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The Database was last updated at Apr 25, 2011