Mutation Details for c.3179A>C
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cDNA Name
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c.3179A>C
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Protein Name
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p.Lys1060Thr
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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K1060T
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Other Details
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This mutation was detected by DGGE analysis and identified by direct sequencing. This mutation was found in one Spanish man with CBAVD.
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Contributors
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Casals T,
Chillon M,
Nunes V,
Gimenez J,
Ramos MD,
Estivill X
1994-02-25
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Institute
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Institut de Recerca Oncologica
Barcelona, Spain
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Submitted Phenotype Details
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Patient (M) is 33y, has PS, sweat-chloride levels of 78mM/l and CBAVD.
5T-12TG was found on the other allele.
(Pers. corr. Casals)
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Reference
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Casals et al. 1995 (NL#61)
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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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