Mutation Details for c.960A>T
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cDNA Name
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c.960A>T
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Protein Name
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p.Leu320Phe
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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L320F
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Other Details
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The L320F mutation was detected in aCzech 8 year old male CF patient. His other CF allele has not been identified thus far. This mutation was not detected by ASO hybridization on 144 non-CF chromosomes of Czech parents.
The diagnosis of CF was raised in the first year of life due to malabsorption with repeated bronchopneumonias, and finally substantiated by sweat chloride concentrations of 36, 38 and 55 mM. The patient also suffers from generalized eczema with pronounced blood eosinophilia.
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Contributors
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Macek MJr,
Mackova A,
ME Egan,
Cutting GR
1994-10-03
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Institute
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Center for Medical Genetics
Baltimore, MD, USA
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Submitted Phenotype Details
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The patient has chronic ABPA (suspected due to pronounced eosinocytosis).
(pers. corr. Macek)
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Reference
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Macek et al. (NL#64)
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