Mutation Details for c.575A>G
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cDNA Name
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c.575A>G
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Protein Name
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p.Asp192Gly
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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D192G
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Other Details
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This mutation was identified by DGGE and direct sequencing. The nucleotide change A->G at position 707 in exon 5 leads to D192G. This mutation was identified on one chromosome of a Yugoslavian patient in collaboration with Dr. Canki Klain.
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Verlingue C,
Guillermit H,
Mercier B,
Raguenes O
1993-01-19
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Institute
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Centre de Transfusion Sanguine
et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The mutation was identified in a slovenian CF patient. (pers. corr. Ferec)
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Reference
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Audrézet et al. 1994
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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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