Mutation Details for c.476T>A
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cDNA Name
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c.476T>A
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Protein Name
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p.Leu159X
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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L159X
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Other Details
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This mutation was seen in a 2 year-old male CF patient whose other CF mutation is [delta]F508. He has had a positive sweat test and is pancreatic insufficient. We have seen this mutation and polymorphism only once in over 200 CF chromosomes screened.
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Contributors
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Andrew N,
Malone G,
Schwarz M
2000-09-14
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Institute
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Royal Manchester Children's Hospital
England
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Submitted Phenotype Details
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The CF patient (male, born in February 1998)is PI, has abnormal sweat chloride and possible chest symptoms. DelF508 is on the other allele.
(pers. corr. Schwarz)
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Reference
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Andrew et al. 2000
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