Mutation Details for c.14C>T
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cDNA Name
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c.14C>T
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Protein Name
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p.Pro5Leu
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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P5L
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Other Details
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This mutation was detected by SSCP analysis, followed by direct sequencing. Mutation P5L was found in 1/50 unrelated Spanish CF non-[delta]F508 chromosomes.
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Contributors
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Chillon M,
Nunes V,
Casals T,
Estivill X
1993-09-14
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Institute
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Institut de Recerca Oncologica
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Submitted Phenotype Details
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Patient (M) is 9y, has PS, FEV1=114%, sweat-chloride levels >100mM/l.
DeltaF508 was found on the other allele.
(Pers. corr. Casals)
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Reference
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Chillón et al. (NL#59)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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