Mutation Details for c.236G>A
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cDNA Name
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c.236G>A
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Protein Name
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p.Trp79X
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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W79X
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Other Details
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This mutation was identified by DGGE and direct sequencing. The nucleotide change G->A, at position 368, leads to W79X in exon 3.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Audrezet MP,
Raguenes O,
Guillermit H,
Mercier B
1994-08-24
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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 French patient (male, 10y) carries G551D on the other allele.
(pers.corr.Ferec)
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Reference
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Férec et al. (NL#58)
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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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