Mutation Details for c.410T>G
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cDNA Name
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c.410T>G
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Protein Name
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p.Leu137Arg
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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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L137R
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Other Details
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This French CF patient has [delta]F508 on the other CF chromosome. This substitution creates a Cfo I site.
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Contributors
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Chevalier-Porst F,
Bozon D
1997-10-28
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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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(pers.corr. Bozon)
The patient, male, 24 yrs, has delF508 on the other allele
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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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