Mutation Details for c.964G>A
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cDNA Name
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c.964G>A
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Protein Name
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p.Val322Met
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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V322M (1096(G/A))
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Other Details
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The nucleotide change G->A at position 1096 in exon 7 leads to V322M.
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Contributors
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Férec C,
Quere I,
Audrezet MP,
Verlingue C,
Guillermit H,
Mercier B
1992-12-23
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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 French CF patient. (pers.corr. Ferec)
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Reference
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Férec et al. (NL #50)
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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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