Mutation Details for c.328G>T
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cDNA Name
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c.328G>T
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Protein Name
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p.Asp110Tyr
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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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D110Y
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Other Details
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This mutation was found by SSCA and direct DNA sequencing in a CBAVD patient. (reported in Human Reproduction (2000) 15, 1476-1483).
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Contributors
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Casals T,
Gimenez J,
Ramos M D,
Estivill X
2000-08-02
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Institute
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CGMM
IRO
Barcelona, Spain
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Submitted Phenotype Details
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Patient (M) is 42y, has PS and CBAVD.
DeltaF508 was found on the other allele.
(Pers. corr. Casals)
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Reference
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Casals 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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