Mutation Details for c.3930G>A
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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.3930G>A
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Protein Name
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p.Trp1310X
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Mgr. Malgorzata Libik, PhD-Faculty Hospital Motol, Dr. Satenik Harutyunyan -Yerevan State Medical University CF Centre , Prof. Milan Macek -Faculty Hospital Motol | - | |
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Submitted Phenotype Details
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Armenian patient born 2005, typical clinical picture, chronic Pseudomonas aeruginosa, sever lung disease, two positive sweat tests
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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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