Mutation Details for c.3460G>T
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cDNA Name
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c.3460G>T
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Protein Name
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p.Asp1154Tyr
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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D1154Y
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Other Details
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This nucleotide change was identified in only one CF Southern Italian patient by DGGE and direct sequencing.
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Contributors
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Polizzi A., Santostasi T., Diana A., Logrillo VP. Manca A., and Armenio L.
2008-06-04
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Institute
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Dipartimento di Biomedicina dell’Età Evolutiva-Laboratorio Fibrosi Cistica-Azienda Policlinico-Università degli Studi di Bari- Bari-ITALY
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Submitted Phenotype Details
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The patient was diagnosed at 1 year (male), is pancreatic sufficiency with mild lung disease. The unique clinical manifestation is loss of salts. He has a positive sweat test (Cl- = 74) and carries a G542X mutation on the other CF 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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