Mutation Details for c.2044_2045insC

cDNA Name c.2044_2045insC 
Protein Name p.Gln685ThrfsX4 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2176insC 
Other Details This insertion was identified in one Bulgarian CF chromosome. 
Contributors Savov A, Angelicheva D, Jordanova A, Kalaydjieva L   1994-02-25
Institute null 
Submitted Phenotype Details The mutation was found in a Bulgarian CF patient (male, 11y) diagnosed at 3 months of age. He is PI, has severe lung disease with PA and Staph Aureus colonmization and sweat chloride of 87 mmol/l. The other mutation is unknown. (pers. corr. Savov) 
Reference Savov et al. (NL#61) 

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The Database was last updated at Apr 25, 2011