Mutation Details for c.2051_2052delAA

cDNA Name c.2051_2052delAA 
Protein Name p.Lys684ThrfsX4 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2183delAA 
Other Details This deletion was found by DGGE and identified by DNA sequencing in a CF patient from Lebanon with 3120+1G->A on the other chromosome. It does not modify any restriction site. 
Contributors Claustres M, Guittard C, Desgorges M, Carles S   1997-07-23
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details The mutation was found in a CF patient (female, 2y) from Lebanon with 3120+1G->A on the other chromosome. She was diagnosed at 1 year of age, is PI, has severe lung disease and sweat chloride 100 mmol/l. (pers. corr. Claustres) 
Reference Claustres et al. (NL#69) 

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The Database was last updated at Apr 25, 2011