Mutation Details for c.1148T>C
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cDNA Name
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c.1148T>C
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Protein Name
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p.Leu383Ser
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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L383S
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Other Details
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The L383S mutation has been detected by DGGE and direct sequencing. The patient is a spanish man with CUAVD.
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Contributors
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Casals T,
Ramos M D,
Gimenez J,
Nunes V,
Estivill, X
1997-01-07
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Institute
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IRO
Barcelona, Spain
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Submitted Phenotype Details
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This mutation was found in 2 individuals, both male.
1. PS and CUAVD
5T-12TG was found on the other allele.
2. CBAVD
(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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