Mutation Details for c.2909delG

cDNA Name c.2909delG 
Protein Name p.Gly970ValfsX11 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name 3041delG 
Other Details  
Contributors Shackleton S Harris A    1994-01-01
Institute John Radcliffe Hospital Oxford  
Submitted Phenotype Details The mutation was identified in a male Irish CF patient diagnosed at 6 weeks. He is PI and carries G551D mutation on the other allele. (pers. corr. Harris) 
Reference Shackleton 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.

  • Shackleton S, Hull J, Dear S, Seller A, Thomson A, Harris A   Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.   1994;3(2):141-51

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The Database was last updated at Apr 25, 2011