Mutation Details for c.4091C>T
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cDNA Name
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c.4091C>T
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Protein Name
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p.Ala1364Val
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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A1364V
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Other Details
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The above mutation was found by DGGE then direct sequencing of a CBAVD patient from Southern France.
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Contributors
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Claustres M,
Carles S,
Desgorges M
1995-07-19
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Institute
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Institut de Biologie Montpellier
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Submitted Phenotype Details
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Patient (M) has CBAVD.
DeltaF508 was found on the other allele.
(Pers. corr. Claustres; de Meeus et al. 1998)
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Reference
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Claustres et al (NL#67)
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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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