Mutation Details for c.2051_2052delAAinsG

cDNA Name c.2051_2052delAAinsG 
Protein Name p.Lys684SerfsX38 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2183AA->G 
Other Details Note:test A new frameshift mutation (2183AA->G) in exon 13 was found in three unrelated CF patients of Sardinian descent, who are compund heterozygous for T338I, D1270N and S912X respectively, and was detected by DGGE analysis and DNA sequencing. The mutation was reported by Leoni GB, Rosatelli MC, Cao A in 1994. 
Contributors Leoni GB, Rosatelli MC, Cao A (1994-01-13)   1994-01-01
Institute Istituto di Clinica e Biologia dell'Eta Evolutiva 
Phenotype Information CFTR2
Reference Leoni et al. 1994 

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The Database was last updated at Apr 25, 2011