Mutation Details for c.1119T>G
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cDNA Name
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c.1119T>G
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Protein Name
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p.Asp373Glu
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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D373E
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Other Details
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We have scanned the entire coding sequences of the CF gene with DGGE and have seen it only once, in over 1000 control chromosomes from Italian population.
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Contributors
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Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-18
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Institute
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Lab. Genetica Molecolare Dip Pediatria, Padova,Italy
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Submitted Phenotype Details
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The mutation was identified in suspect CF North-East Italian patient (male 6y). The patient had neonatal hypertrypsinemia and negative sweat test. He carries I148T on the same and deltaF508 on the other allele.
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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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