Mutation Details for c.3294G>A
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cDNA Name
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c.3294G>A
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Protein Name
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p.Trp1098X
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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W1098X(TGA)
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Other Details
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Mutation W1098X (G->A at 3426) in exon 17b is the same mutation as described by Macek (NL#58) but is due to a different nucleotide change. The mutation was found by direct sequencing. Surprisingly the patient, whose parents do not seem to be consanguineous, is homozygous for this mutation.
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Contributors
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Michel-Calemard L,
Bey Omar F,
Morel Y
1996-07-10
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Institute
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Service de Biochimie Endocrinienne et Moléculaire,
Hopital Debrousse
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Submitted Phenotype Details
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Reference
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Michel-Calemard et al. (NL#69)
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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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