Mutation Details for c.941G>T
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cDNA Name
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c.941G>T
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Protein Name
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p.Gly314Val
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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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G314V
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Other Details
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This mutation was found in a CF patient homozygous for this mutation. He was diagnosed as CF at 32 years.
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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)
One homozygous patient, diagnosed at 32 yrs, no meconium ileus, sweat chloride 74 mEq/l.
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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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