Mutation Details for c.174_177delTAGA
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cDNA Name
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c.174_177delTAGA
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Protein Name
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p.Asp58GlufsX32
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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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306delTAGA
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Other Details
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This mutation was detected by DGGE and identified by direct DNA sequencing in a Caucasian patient by Ferec C, Quere I, Verlingue C, Raguenes O, Audrezet M-P, and Mercier B.
It was also reported in a Bulgarian patient by Savov A, Angelicheva D, Jordanova A, Kremensky A, Kalaydjieva L (Feb 1, 1995); please contact Kremensky.
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Contributors
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Ferec C, et al.
Savov A, et al.
1994-12-19
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Institute
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Centre de Tranfusion Sanguine et de Biogenetique, Brest, France
Bulgarian Institute, Sofia, Bulgaria
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Submitted Phenotype Details
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The French CF patient (female, 10y) was diagnosed at birth, presenting with meconium ileus. She is PI, has moderate lung disease and positive sweat chloride. She carries R553X on the other allele.(Clavel et all, 1997 and pers.corr. Ferec)
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Reference
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Férec et al.; Savov et al. (NL#65)
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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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