Mutation Details for c.443T>A
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cDNA Name
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c.443T>A
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Protein Name
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p.Ile148Asn
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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I148N
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Other Details
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Patient was from Brazil and of Afro-American origin. The mutation was detected by SSCA and direct
sequencing.
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Contributors
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Casals T,
Ramos MD,
Gimenez J,
Nunes V,
Estivill X.
Faucz F,
Raskin S.
1996-07-19
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Institute
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IRO,
Spain.
Lab. Genetika,
Brazil
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Submitted Phenotype Details
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No phenotypic information is available about this individual.
(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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