Mutation Details for c.965T>C
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cDNA Name
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c.965T>C
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Protein Name
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p.Val322Ala
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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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V322A
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Other Details
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A novel allele was identified by DGGE and direct sequencing. As this nucleotide change was identified through a neonatal screening program we have no arguments to consider it as a polymorphism or a mutation
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Raguenes O,
Audrezet MP,
Mercier B
1994-10-07
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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 an individual with neonatal hypertrypsinemia. (pers. corr. Ferec)
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Reference
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Férec et al. (NL#63)
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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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