Mutation Details for c.598T>A
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cDNA Name
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c.598T>A
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Protein Name
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p.Phe200Ile
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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F200I
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Other Details
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This mutation was detected by D-HPLC and identified by DNA fluorescent sequencing in a CBAVD patient from Southern France heterozygous for the [delta]F508 mutation. No parental DNA was available at that time to determine on which allele F200I was carried.
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Contributors
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Claustres M,
des Georges M,
Guittard C
2002-03-12
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Institute
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IURC
Montpellier
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Submitted Phenotype Details
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One patient (45, male) carrying delF508 on the other allele, CBAVD
(pers. corr. Claustres)
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Reference
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Claustres et al. 2002
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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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