Mutation Details for c.3039_3040insC

cDNA Name c.3039_3040insC 
Protein Name p.Tyr1014LeufsX33 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3171insC 
Other Details The insertion 3171ins C has been found in a female who carries the [delta]F508 mutation on the other chromosome. 
Contributors Grade K, Grunewald I, Coutelle C   1993-10-03
Institute Max-Delbruck-Centrum fur Molekulaire Medizin 
Submitted Phenotype Details  
Reference Grade 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.

  • Grade K, Grunewald I, Graupner I, Behrens F, Coutelle C   Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis.   1994 008;94(2):154-8

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The Database was last updated at Apr 25, 2011