Mutation Details for c.365A>G
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cDNA Name
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c.365A>G
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Protein Name
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p.Tyr122Cys
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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Y122C
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Other Details
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The mutation was detected by dHPLC analysis and characterised by direct sequencing. We have seen it only once, in over 2000 control chromosomes from Italian population.
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Contributors
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Picci L., Cameran M., Marangon O., Marzenta D., Mattina T.*
2006-12-20
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Institute
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Centro Malattie Rare, Dipartimento Pediatria, Padova, Italy * Genetica Medica, Policlinico Catania, Italy
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Submitted Phenotype Details
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The mutation was identified in suspect CF Italian patient (male, 12y). The patient has persistent lower airway infection and negative sweat test. He carries 2183 AA/G 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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