Mutation Details for c.44T>C
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cDNA Name
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c.44T>C
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Protein Name
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p.Leu15Pro
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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L15P
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Other Details
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This change has been detected by SSCP/HD analysis and direct sequencing in one CF allele from Ecuador
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Contributors
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J. Gimenez, MD. Ramos, H. Escobar, T. Casals
2004-12-29
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Institute
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CGMM-IRO. Barcelona. Spain
Hospital Ramon y Cajal. Madrid. Spain
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Submitted Phenotype Details
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Patient is a boy, 7 years old, with bilateral chronic sinus pathology; pancreatic sufficient and sweat test 135 mmol/L. He presents the genotype [G85E] + [L15P] (pers. corr. T. Casals)
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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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