Mutation Details for c.1451A>G
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cDNA Name
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c.1451A>G
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Protein Name
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p.His484Arg
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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H484R
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Other Details
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Neonatal screening asymtomatic child at the present time.
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Contributors
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Férec C
1998-12-23
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Institute
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Laboratoire de Biogénétique,
University of Brest
Brest, France
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Submitted Phenotype Details
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The mutation was identified ina patient with neonatal hypertrypsinemia.(pers. corr. Ferec)
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Reference
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Férec 1998
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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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