Mutation Details for c.902A>G
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cDNA Name
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c.902A>G
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Protein Name
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p.Tyr301Cys
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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Y301C
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Other Details
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This mutation is in exon 7 at amino acid residue 301. It is substitution of Cysteine for Tyrosine (Y301C), because of a A->G transition.
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Contributors
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Constantinou-Deltas CD
1993-07-23
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Institute
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Cyprus Institute of Neurology & Genetics
Nicosia, Cyprus
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Submitted Phenotype Details
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Reference
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Constantinou-Deltas (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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