Mutation Details for c.2780T>C

cDNA Name c.2780T>C 
Protein Name p.Leu927Pro 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name L927P 
Other Details A new mutation in exon 15 was identified in exon 15 in three Dutch Cf patients (out of 148 non [delta[F508 chromosomes). This mutation was detected by direct sequence analysis of exon 15 in one CF patient and is a base pair substitution (T at position 2912 to a C) resulting in a replacement of a leucine by a proline at position 927. Two of the CF patients have the [delta]F508 mutation on the other allel, wheras the third one has the [delta]L1260 mutation as second mutation. 
Contributors Hermans C, Halley D, Ouwelan Avd   1994-02-10
Institute Erasmus University The Netherlands 
Phenotype Information CFTR2
Reference Hermans 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.

  • Hermans CJ, Veeze HJ, Drexhage VR, Halley DJ, van den Ouweland AM   Identification of the L927P and delta L1260 mutations in the CFTR gene.   1994 007;3(7):1199-200

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The Database was last updated at Apr 25, 2011