Mutation Details for c.3444C>A
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cDNA Name
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c.3444C>A
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Protein Name
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p.Asn1148Lys
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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N1148K
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Other Details
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This mutation was found by DGGE and direct DNA sequencing in a child with bronchiectasis and sweat test borderline.
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Contributors
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Casals T,
Gimenez J,
Ramos M D,
Estivill X
2000-08-02
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Institute
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CGMM
IRO
Barcelona, Spain
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Submitted Phenotype Details
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Patient (F) is 8y, has PS, borderline sweat-chloride levels and bronchiectasis.
No other mutation has been found.
(Pers. corr. Casals)
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Reference
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Casals et al. 2000
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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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