Mutation Details for c.3083T>G
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cDNA Name
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c.3083T>G
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Protein Name
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p.Met1028Arg
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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M1028R
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Other Details
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This mutation was found by DGGE and direct DNA sequencing in asthamtic patients of age older than 60 years.
Reported in Hum Mut 14:510-519(1999)
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Contributors
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Lázaro C,
Cid R,
Alvarez M,
Casals T,
Estivill X
2000-09-25
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Institute
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Centre de Genètica Mèdica i Molecular, IRO
Barcelona, Spain
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Submitted Phenotype Details
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This individual (F) is 48y and is known to have asthma.
No other mutation was found.
(Pers. corr. Casals)
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Reference
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Lázaro et al. 2000
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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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