Mutation Details for c.1079C>G
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cDNA Name
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c.1079C>G
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Protein Name
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p.Thr360Arg
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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T360R
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Other Details
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This sequence change was found on a CF chromosome also bearing [delta]F508 but it was found only once out of 1460 CF chromosomes screened.(Original Note Chevalier-Porst et al., 13 July 1998) NL#70
The mutatioan was also identified by Ferec et al. in a CF patient and reported on 23 December 1998.
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Contributors
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Chevalier-Porst F,
Bozon D
1998-07-13
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Institute
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Biochimie, Bat D,
Hopital Debrousse, Lyon, France
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Submitted Phenotype Details
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The mutation was identified in a CF patient, diagnosed at birth, carrying deltaF508 on the other allele. (pers. corr. Ferec)
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Reference
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Chevalier-Porst & Bozon (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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