Mutation Details for c.1745C>T
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cDNA Name
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c.1745C>T
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Protein Name
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p.Thr582Ile
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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T582I
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Other Details
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Contributors
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Claustres M,
Desgorges M,
Romey M-C
1995-12-22
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Institute
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Institut de Biologie Montpellier
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Submitted Phenotype Details
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Patient (M) is 71y, has PS, bronchiectasis elevated sweat-chloride (90mM/l) and CBAVD.
5T was found on the other allele.
(Pers. corr. Claustres)
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Reference
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Claustres et al (NL#67)
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