Mutation Details for c.1510G>T
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cDNA Name
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c.1510G>T
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Protein Name
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p.Glu504X
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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E504X
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Other Details
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The mutation E504X was detected by SSCA and direct sequencing in a CF patient from Brazil (Afro-American origin).
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Contributors
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Casals T,
Gimenez J,
Ramos M D,
Nunes V,
Estivill X,
Faucz F,
Raskin S,
1997-01-31
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Institute
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IRO, Barcelona, Spain
Lab. Genetika, Curitiba, Brazil
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Submitted Phenotype Details
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No additional clinical information available. (pers. corr. Casals)
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Reference
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Casals et al. (NL#69)
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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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