Mutation Details for c.2756A>G
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cDNA Name
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c.2756A>G
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Protein Name
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p.Tyr919Cys
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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Y919C
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Other Details
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This mutation was identified by DGGE and direct sequencing. The mutation was found on one Bulgarian CF chromosome.
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Contributors
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Kalaydjieva L,
Savov A,
Angelitcheva D,
Ferec C,
Quere I,
Audrezet MP,
Mercier B
1993-03-23
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Institute
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Centre de Transfusion Snaguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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Savov et all is reporting Y919C as a polymorphism. (pers. corr. Savov)
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Reference
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Savov et al. 1994a
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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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