Mutation Details for c.1642_1643delCT
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cDNA Name
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c.1642_1643delCT
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Protein Name
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p.Leu548GlufsX19
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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1774delCT
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Other Details
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A new mutation was found in exon 11 of the CFTR gene. The frameshift mutation is a deletion of CT at nucleotide position 1774. The mutation abolishes the same Ddel site as S549R, S549N or S549I. It has been identified by direct sequencing. The deletion was found in one French CF chromosome associated with the B haplotype. The boy who is 9 years old has inherited the deltion from his mother and carries a yet undefined mutation on the other chromosome.
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Contributors
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Michel-Calemard L,
Omar FB,
Morel Y
1994-01-13
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Institute
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Mospices Civils de Lyon Hopital Debrousse
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Submitted Phenotype Details
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Reference
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Michel-Calemard et al. (NL#61)
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