Mutation Details for c.1807G>T

cDNA Name c.1807G>T 
Protein Name p.Val603Phe 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name V603F 
Other Details This mutation was found together with a sequence polymorphism at nucleotide position 1929 where A was present instead of T. V603F was found in 2 CF patients of East Indian origin. One of them carried [delta]F508 on the other allele, with sweat chloride level of 102 meq/l, pancreatic insufficiency and moderate lung disease. The other patient was found to carry the 5T variant in intron 8 but the phase with V603F (ie. cis or trans) could not be determined; the sweat chloride level of this patient was low 33 meq/l; pancreatic sufficient; mild lung disease.  
Contributors Zielenski J, Tzountzouris J, Tsui L-C, Bjorck E, Strandvik B, Wahlstrom J   1998-03-18
Institute The Hospital for Sick Children, Toronto, Canada Sahlgrenska University Hospital East Gothenberg, Sweden 
Submitted Phenotype Details No additional clinical data available. See original note. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#70) 

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The Database was last updated at Apr 25, 2011