Mutation Details for c.3775A>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.3775A>T
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Protein Name
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p.Arg1259X
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Exon or Intron
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Other Details
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Mutation is found in one female Russian CF patient, the second allele is F508del
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Contributors and Institutes
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Petrova N.V., Dr.Biol., Kondratyeva E.I., Prof., Dr.Med. Research Centre for Mrdical Genetics, Moscow, Russian Federation | - | |
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Submitted Phenotype Details
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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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