Mutation Details for c.446G>T
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cDNA Name
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c.446G>T
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Protein Name
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p.Gly149Val
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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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G149V
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Other Details
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This mutation was detected by exon 4 DGGE and sequencing in one Portuguese CF patient with the F508del in the other gene.
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Contributors
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Pacheco P, Loureiro P, Monteiro T.
2006-05-12
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Institute
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Instituto Nacional de Saúde, Centro de Genética Humana, Lisboa, Portugal
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Submitted Phenotype Details
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This mutation was detected in a Portuguese female patient diagnosed with CF at 9 years of age. The patient died at age 13 with a respiratory infection by Staphilococcus aureus.
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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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