Mutation Details for c.1807G>T
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cDNA Name
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c.1807G>T
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Protein Name
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p.Val603Phe
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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V603F
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Other Details
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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.
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Contributors
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Zielenski J,
Tzountzouris J,
Tsui L-C,
Bjorck E,
Strandvik B,
Wahlstrom J
1998-03-18
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Institute
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The Hospital for Sick Children,
Toronto, Canada
Sahlgrenska University Hospital
East Gothenberg, Sweden
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Submitted Phenotype Details
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No additional clinical data available. See original note. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#70)
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