Mutation Details for c.606G>A
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cDNA Name
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c.606G>A
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Protein Name
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p.Trp202X
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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W202X
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Other Details
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This change has been detected by SSCP/HD analysis and direct sequencing. The mutation destroys a MboI restriction site
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Contributors
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T. Casals, J. Gimenez, MD. Ramos, M. Sanchez-Solis
2003-04-09
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Institute
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CGMM-IRO Barcelona, Spain Hospital V. Arrixaca, Murcia, Spain
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Submitted Phenotype Details
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1 patient (male, 14 years old), PI since 8y, St aureus colonisation, bronchiectasis, FEV1 75%, sweat test 95mMol/L and F508del 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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