Mutation Details for c.2669A>G
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cDNA Name
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c.2669A>G
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Protein Name
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p.Gln890Arg
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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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Q890R
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Other Details
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This mutation was found by DGGE and direct DNA sequencing in a Spanish CUAVD patient.
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Contributors
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Casals T,
Ramos M D,
Jimenez J,
Nunes V,
Estivill X
1998-12-31
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Institute
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IRO
Barcelona,
Spain
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Submitted Phenotype Details
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Patient (M) is 35y and has CUAVD.
No other mutation was found.
(Pers. corr. Casals)
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Reference
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Casals et al. 1998
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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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