Mutation Details for c.233delT
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cDNA Name
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c.233delT
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Protein Name
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p.Phe78SerfsX13
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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360delT
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Other Details
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The mutation was detected by DGGE and identified by direct sequencing in a patient with CBAVD. The other mutation of this patient is L997P. 360delT is not found in 200 other non-[delta]F508 CF chromosomes nor 200 non-CF chromosomes.
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Contributors
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Bienvenu T,
Bousquet S,
Stephann,
Vidaud D,
Beldjord C
1998-04-17
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Institute
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Groupe Hospitalier Cochin
Paris, France
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Submitted Phenotype Details
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The mutation was detected in a 38 years old patient diagnosed with CBAVD at 30. He is PS and has no respiratory symptoms. The other mutation of this patient is L997P. (pers.corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#70)
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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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