Mutation Details for c.3194T>G

cDNA Name c.3194T>G 
Protein Name p.Leu1065Arg 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name L1065R 
Other Details L1065R was observed by direct sequencing after detection of an abnormal DGGE pattern. The CF patient is a 6-year old girl with PI, carrying [delta]F508 mutation in the other chromosome. 
Contributors Casals T, Ramos M D, Gimenez J, Nunes V, Estivill X   1995-12-12
Institute IRO, Spain 
Submitted Phenotype Details Patient (F) is 6y, has PI and sweat-chloride levels of 80mM/l. DeltaF508 was found on the other allele. (Pers.corr. Casals)  
Reference Casals et al (NL#67) 

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The Database was last updated at Apr 25, 2011