Mutation Details for c.1675G>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.1675G>T
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Protein Name
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p.Ala559Ser
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Exon or Intron
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Other Details
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Variation found by CFTR Devyser NGS kit, confirmed by sanger sequencing
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Contributors and Institutes
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| mgr Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr Dr. Guergana Petrova – Alexandrovska | - | University Hospital Sofia, prof.Milan Macek Faculty Hospital Motol, Prague, Czech Republic. |
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Submitted Phenotype Details
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Two years old bulgarian boy, pancratic insufiency, sweat test 69,5 Cl
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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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