Mutation Details for c.307G>T
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cDNA Name
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c.307G>T
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Protein Name
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p.Gly103X
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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G103X
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Other Details
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This mutation was discovered by SSCP, and sequencing shows a G to T transition at position 439 causing a stop codon in place of a glycine residue.
A probe synthesized with the change included showed that the mutation had come from her mother who had, in turn, received it from her mother. The patient is 17 years old and is in reasonably good health. She has a G542X mutation on the other allele.
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Contributors
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Edkins E,
Gray K,
Norman D
1992-07-16
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Institute
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Princess Margaret Hospital for Children
Perth, Australia
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Submitted Phenotype Details
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Reference
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Edkins et al. (NL#47)
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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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