Mutation Details for c.1366G>T

cDNA Name c.1366G>T 
Protein Name p.Val456Phe 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name V456F 
Other Details This mutation was detected in a seven year old German CF patient who it heterozygous for R1162X and pancreas sufficient. V456F destroys a recognition site for Acil which is also abolished by mutation A455E. WE have not seen V456F in further 220 German CF chromosomes. 
Contributors Dork T, Tummler B   1993-04-29
Institute Medizinische Hochschule Hannover 
Submitted Phenotype Details One CF patient (male, 7y) diagnosed at 1.3y, sweat chloride 100 mmol/l, PS. He carries R1162X on the other allele.(Doerk et all 1993 and pers.corr.Doerk) 
Reference Dörk et al. 1994a 

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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.

  • Dork T, Fislage R, Neumann T, Wulf B, Tummler B   Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.   1994 001;93(1):67-73

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The Database was last updated at Apr 25, 2011