Mutation Details for c.1022_1023insTC

cDNA Name c.1022_1023insTC 
Protein Name p.Phe342HisfsX28 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1154insTC 
Other Details This mutation was detected by SSCP gel electrophoresis of the PCR products generated by using the previously reported primers CF34 and CF35. This mutation was not found on 225 other non-[delta]F CF chromosomes. There is no haplotype information. 
Contributors Dean M, Belle White M, Gerrard B, Stewart C   1990-04-23
Institute National Cancer Institute Frederick, MD, USA 
Phenotype Information CFTR2
Reference Dean et al. 1991 

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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.

  • Friedman KJ, Blalock ML, Heim RA, Silverman LM   Relatively high prevalence of the CFTR mutations, G85E and 1154insTC.   1995;6(1):95-6
  • Livshits LA, Kravchenko SA   Cystic Fibrosis in Ukraine: age, origin and tracing of the delta F508 mutation.   1996 012;10(3):219-27
  • Petrova NV, Ginter EK, Kapranov NI, El'chinova GI   [Portion of certain cystic fibrosis gene mutations and linkage dysequilibrium between the CFTR-gene locus and two DNA marker loci in Russian populations].   1994 007;30(7):974-7

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The Database was last updated at Apr 25, 2011