Mutation Details for c.1781T>C
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cDNA Name
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c.1781T>C
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Protein Name
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p.Leu594Pro
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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L594P
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Other Details
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The mutation was detected by DHPLC analysis and characterized by sequencing
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Contributors
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CABET/BEY - OMAR F., PLOYE F., MOREL Y.,
2007-10-15
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Institute
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Lab. Biologie Moleculaire et de Biochimie Endocrinienne Lyon
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Submitted Phenotype Details
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L594P was found in a boy positive for IRT test at the neonatal screening. His sweat chloride levels ranging from 95 mmol/l. The other mutation is [delta]F508
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Reference
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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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