Mutation Details for c.2374C>G
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cDNA Name
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c.2374C>G
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Protein Name
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p.Arg792Gly
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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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R792G
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Other Details
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R792P was detected by SSCP and heteroduplex analysis followed by direct sequencing.
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Contributors
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Glavac D,
Ravnik-Glavac M,
Dean M
1995-04-25
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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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Patient (M) has CBAVD.
DeltaF508 was found on the other allele.
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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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