Mutation Details for c.-165G>A
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cDNA Name
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c.-165G>A
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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-33G->A
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Other Details
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The above mutation was found by DGGE and then direct sequencing of the DNA from a patient with CBAVD from Southern France. This change was not seen in any of the normal alleles in the study.
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Contributors
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Claustres M,
Carles S,
Desgorges M
1995-09-08
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Institute
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Institute de Biologie Montpellier
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Submitted Phenotype Details
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The mutation was identified in a 30 years old male with CBAVD. No other mutation was found. (pers. corr. Claustres)
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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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