Mutation Details for c.4272C>A
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cDNA Name
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c.4272C>A
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Protein Name
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p.Tyr1424X
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Exon or Intron
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exon 27
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Other Details
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he patient is compound heterozygote, the second mutation is C to T at 146 (p.P5L); the mutation was detected after sequencing of the whole CFTR gene and was detected only once in our cohort of CF-patients
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Contributors and Institutes
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| Wagner Klaus | - | Medical University Graz, Institute of Human Genetics |
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Submitted Phenotype Details
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The female patient was born 2004, parents are from Serbia and were not available for analysis. Sweat test was repeatedly positive, PS
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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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