Mutation Details for c.1900C>T
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cDNA Name
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c.1900C>T
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Protein Name
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p.Gln634X
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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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Q634X
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Other Details
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The mutation was found in the CFTR gene by direct sequencing.
Mutation Q634X in exon 13 (T->A at 2032) was found once in a French CF
chromosome associated with the A haplotype. The patient carries [delta]F508 on
her other chromosome.
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Contributors
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Michel-Calemard L,
Bey Omar F,
Morel Y
1996-07-10
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Institute
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Service de Biochimie Endocrinienne et Moléculaire,
Hopital Debrousse
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Submitted Phenotype Details
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Reference
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Michel-Calemard et al. (NL#69)
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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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