Mutation Details for c.4351C>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.4351C>T
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Protein Name
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p.Pro1451Ser
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Exon or Intron
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Other Details
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The mutation was detected by direct DNA sequencing.
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Contributors and Institutes
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Alper Özgül | - | Bingöl Aysen | Basaran Erdem, | - | Akdeniz University Faculty of Medicine, Departments of Medical Biology and Genetics, Pediatrics,Division of Immunology and Allergy, Antalya |
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Submitted Phenotype Details
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The mutation was identified in a Turkish male (11 months of age)CF patient presenting with pneumonia,hypothyroidy, large ASD, growth retardation, atypical face, right kidney agenesis,sweat chloride level was 30,60mmol/L born from a 1 degree consanguineous parents. The other mutant allele is unidentified.
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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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