Mutation Details for c.3179A>C

cDNA Name c.3179A>C 
Protein Name p.Lys1060Thr 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name K1060T 
Other Details This mutation was detected by DGGE analysis and identified by direct sequencing. This mutation was found in one Spanish man with CBAVD. 
Contributors Casals T, Chillon M, Nunes V, Gimenez J, Ramos MD, Estivill X   1994-02-25
Institute Institut de Recerca Oncologica Barcelona, Spain 
Submitted Phenotype Details Patient (M) is 33y, has PS, sweat-chloride levels of 78mM/l and CBAVD. 5T-12TG was found on the other allele. (Pers. corr. Casals) 
Reference Casals et al. 1995 (NL#61) 

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The Database was last updated at Apr 25, 2011