Mutation Details for c.1919_1920delTT
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cDNA Name
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c.1919_1920delTT
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Protein Name
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p.Phe640X
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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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2051delTT
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Other Details
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This deletion was found by SSCA and identified by direct DNA sequencing in a Spanish CF patient whose other CF mutation was 2603delT. No clinical data available.
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Contributors
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Casals T,
Ramos M D,
Jimenez J,
Nunes V,
Estivill X
1998-12-31
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Institute
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IRO
Barcelona,
Spain
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Submitted Phenotype Details
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The patient (male, 12y) has sweat chloride 100 mmol/l and carries 2603delT on the other allele. The patient has PA and Staph Aureus colonization. (pers. corr. Casals)
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Reference
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Casals et al. 1998
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