Mutation Details for c.2750A>G
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cDNA Name
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c.2750A>G
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Protein Name
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p.Tyr917Cys
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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Y917C
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Other Details
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This mutation was found by SSCP and sequencing the PCR products and proved by dot blots with oligonucleotides.
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Contributors
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Edkins E,
Creegan R
1993-12-03
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Institute
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Princess Margaret Hospital For Children
Perth, Western Australia
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Submitted Phenotype Details
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Reference
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Edkins & Creegan (NL#60)
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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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