Mutation Details for c.503C>T
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.503C>T
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Protein Name
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p.Ser168Leu
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Exon or Intron
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Other Details
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The above mutation was detected by MLPA analysis and identified by direct DNA sequencing. It creates a Msel restriction site in the DNA sequence
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Contributors and Institutes
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| Giselda M.K. Cabello | - | Human Genetics Laboratory, Oswaldo Cruz Institute, FIOCRUZ - Brazil | | Pedro H. Cabello | - | Human Genetics Laboratory, Oswaldo Cruz Institute, FIOCRUZ - Brazil | | Raisa S. Martins | - | Human Genetics Laboratory, Oswaldo Cruz Institute, FIOCRUZ - Brazil | | Ana Carolina P da Fonseca | - | Human Genetics Laboratory, Oswaldo Cruz Institute, FIOCRUZ - Brazil |
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Submitted Phenotype Details
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The patient (female, 20y) is a PI Brazilian, African descendant CF patient, and the second chromosome carriers an unknown 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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