Mutation Details for c.3041A>G
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cDNA Name
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c.3041A>G
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Protein Name
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p.Tyr1014Cys
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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Y1014C
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Other Details
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This mutation was found a patient with inconclusive sweat test results.
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Contributors
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Bozon D
1998-03-19
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Institute
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Hopital Debrousse,
Lyon, France
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Submitted Phenotype Details
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Patient (M) is 3y and has sweat-chloride levels ranging from 55mM/l to 165mM/l.
DeltaF508 was found on the other allele.
(Pers. corr. Bozon)
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Reference
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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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