Mutation Details for c.1191_1192insA
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cDNA Name
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c.1191_1192insA
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Protein Name
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p.Thr398AsnfsX13
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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1323insA
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Other Details
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This mutation was detected by DGGE and identified by direct sequencing in a Columbian patient. It is not found in 100 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested.
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Contributors
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Vidaud D,
Keyeux G,
Bousquet S,
Beldjord C,
Bienvenu T
1998-06-04
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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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Reference
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Vidaud 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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