Mutation Details for c.1792A>T
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cDNA Name
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c.1792A>T
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Protein Name
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p.Lys598X
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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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K598X
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Other Details
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This mutation was detected by DHPLC analysis followed by direct sequencing. This mutation was found in one CF patient of romanian origin who carried the G542X allele on the second CF allele.
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Contributors
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Seia M, Porcaro L., Colombo C., Russo M.C.
2006-09-21
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Institute
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Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena
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Submitted Phenotype Details
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The boy was diagnosed because of positive neonatal screening (persistent neonatal hypertrypsinemia), sweat chloride were 111.03 and 95.88 mEq/l. No respiratory symptoms, pancreatic insufficiency and normal growth at 6 months.
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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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