Mutation Details for c.1853T>C
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cDNA Name
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c.1853T>C
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Protein Name
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p.Ile618Thr
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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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I618T
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Other Details
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The I618T mutation was detected in a 3 year old African-American female patient. The other CF allele is the [delta]F508 mutation. ASO hybridization screening did not detect this mutation among 94 non-CF chromosomes of African-American CF parents. The patient presented with reactive airway disease and was subsequently found to have sweat chloride concentration of 60mM. No other clinical information is available to us.
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Contributors
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Macek MJr,
Mackova A,
Sedriks SE,
Egan ME,
Cutting GR
1994-06-01
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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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Patient (F) is 3y, has PS, reactive airway disease and sweat-chloride levels of 60mM/l.
DeltaF508 was found on the other allele.
(Macek, contribution to CFMD; Vankeerberghen et al. 1998)
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Reference
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Macek et al. (NL#62)
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