Mutation Details for c.326_327delAT
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cDNA Name
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c.326_327delAT
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Protein Name
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p.Tyr109X
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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458delAT
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Other Details
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This mutation was foudn by SSCP analysis followed by direct sequencing in one Slovenian CF patient who is homozygous without [delta]F508 mutation. The other mutation is not yet identified.
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Contributors
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Ravnik-Glavac M,
Glavac D,
Komel R,
Dean M
1992-06-17
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Institute
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National Institutes of Health
Frederick, MD, USA
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Submitted Phenotype Details
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Reference
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Ravnik-Glavac et al. (NL #46)
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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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