Mutation Details for c.173A>G
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cDNA Name
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c.173A>G
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Protein Name
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p.Asp58Gly
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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D58G
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Other Details
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This putative mutation was detected by DGGE and identified by DNA fluorescent sequencing in a CBAVD patient from Tunisia, who is heterozygous for the mutation N1303K.
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Contributors
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Claustres M,
des Georges M,
Guittard C
2000-07-19
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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.
N1303K was found on the other allele.
(pers. corr. Claustres)
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Reference
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Claustres et al. 2000
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