Mutation Details for c.2297G>T
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cDNA Name
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c.2297G>T
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Protein Name
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p.Arg766Met
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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R766M
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Other Details
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R766M was identified by non-radioactive SSCP and direct sequencing; it creates a FokI
restriction site.
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Contributors
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Glavac D,
Ravnik-Glavac M,
Dean M
1995-05-03
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Institute
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National Institute of Chemistry,
Slovenia
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Submitted Phenotype Details
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This male individual is known to only have CBAVD.
R792G was found on the other allele.
(Ravnik-Glavac et al. 2000)
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Reference
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Glavac et al. (NL#66)
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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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