Mutation Details for c.1545_1546delTA

cDNA Name c.1545_1546delTA 
Protein Name p.Tyr515X 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name 1677delTA 
Other Details This mutation has been identified in 3 families with high risk of CF, all from small ethnic group of Georgia.  
Contributors Baranov V   1991-05-10
Institute Institute of Obstetrics & Gynaecology Lenigrad, Russia 
Phenotype Information CFTR2
Reference Ivaschenko et al. 1991; Angelicheva et al. 1994 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

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The Database was last updated at Apr 25, 2011