Mutation Details for c.1829T>C
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cDNA Name
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c.1829T>C
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Protein Name
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p.Leu610Ser
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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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L610S
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Other Details
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The nucleotide change T->C, at position 1961 in exon 13 leads to L610S. This mutation was identified on one French CF chromosome. The patient was diagnosed 3 months ago during a systematic neonate screening. There is no clinical data available now.
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Verlingue C,
Guillermit H,
Mercier B,
Raguenes O
1993-01-19
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The French CF patient (male,10y) was diagnosed at birth. He carries 1078delT on the other allele. (pers.corr. Ferec)
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Reference
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Férec et al. (NL#52)
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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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