Mutation Details for c.2476G>A

cDNA Name c.2476G>A 
Protein Name p.Glu826Lys 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name E826K 
Other Details The above sequence alteration was found by DGGE analysis of a sarcoidosis patient. It was sequenced and confirmed with a Restriction site Generating PCR assay. It was absent by DGGE analysis in 208 control chromosomes, and by sequencing 60 chromosomes with unknown CFTR mutations. 
Contributors Bombieri C, Benetazzo M G, Saccomani A, Pignatti P F   1995-12-05
Institute Institute of Biology and Genetics, Verona, Italy 
Submitted Phenotype Details This individual (F) is 62y and is known to only have sarcoidosis. No other mutation was found. (Pers. corr. Bombieri) 
Reference Bombieri et al (NL#67) 

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The Database was last updated at Apr 25, 2011