Mutation Details for c.1966G>T
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cDNA Name
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c.1966G>T
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Protein Name
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p.Glu656X
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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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E656X
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Other Details
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This nonsense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Belgium which carries [delta]F508 on the other chromosome.
This boy, born in 1996, presents a severe phenotype of CF with a positive sweat chloride test (92mmol/l) and a lung colonization with Staphylococcus aureus.
This mutation does not modify any restriction site.
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Contributors
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Claustres M,
Guittard C,
Hilbert P(*)
1997-10-16
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Institute
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Institut de Biologie Montpellier.
(*)Institut de Pathologie et de Génétique
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Submitted Phenotype Details
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The mutation was found in a 1 year old male patient, PI, with severe lung disease and sweat chloride 92 mmol/l. He carries deltaF508 on the other allele. (pers. corr. Claustres)
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Reference
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Claustres et al. (NL#70)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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