Mutation Details for c.3445delT
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cDNA Name
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c.3445delT
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Protein Name
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p.Ser1149ProfsX3
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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3577delT
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Other Details
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This mutation was detected by DGGE and identified by direct sequencing in a CBAVD patient. It was not found in 200 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. The other mutation was unknown.
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Contributors
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Bienvenu T,
Bousquet S,
Stephann J,
Vidaud D,
Beldjord C
1997-12-29
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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 found in a CBAVD patient. No other mutation was identified. (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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