Mutation Details for c.160G>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.160G>T
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Protein Name
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p.Glu54X
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Exon or Intron
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Other Details
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Bulgarian ethnic origine
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Contributors and Institutes
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| Medical University Sofia, Bulgaria. National genetic laboratory. | - | |
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Submitted Phenotype Details
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Typical findings of cystic fibrosis. Lung involvement, elevated chloride values, fail to thrive and pancreatic insufficiency.
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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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