Mutation Details for c.473_474insT
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cDNA Name
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c.473_474insT
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Protein Name
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p.Leu159PhefsX4
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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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605insT
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Other Details
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The 605 ins T mutation was detected in a 10 year old Slovak male CF patient. This mutation was compunded with the [delta]F508 mutation. No clinical information is available to us on this patient.
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Contributors
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Mackova A,
Macek MJr,
Cutting GR
1994-10-18
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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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One patient (21y, male) was diagnosed at 8m with CF. He is PI, has moderate lung disease (FEV1=58%), sweat chloride 89.7-116.4 mmol/l. From the clinical history: bronchiectasis, rec. bronchitis,Staph Aureus colonization, failure to thrive from 1m to 10y, DIOS at 3y,IGT at 11y, CFRDM at 18y, nasal poliposis, chronic sinusitis, no liver disease, but LFT decline lately.
(pers. corr. Kayserova)
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Reference
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Mackova et al. (NL#64)
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