Mutation Details for c.2390_2391insC
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cDNA Name
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c.2390_2391insC
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Protein Name
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p.Gln799SerfsX6
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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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2522insC
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Other Details
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This frameshift mutation was identified in a single patient from Naples with C/D haplotypes. The mutation is an insertion of a C residue within a stretch of 4 Cs found at position 2522. The mutation will be referred to as 2522insC. The mutation was detected on SSCP gels following amplification with primers CF-17 and CF-8. The mutation destroys a BgI site and can be detected this way. The mutation was not found in 10 other non-[delta]F chromosomes from Naples.
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Contributors
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Dean M,
Gerrard B,
Sebastio G
1990-07-16
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Institute
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National Cancer Institute
Frederick, MD, USA
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Submitted Phenotype Details
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Reference
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White et al. 1991a
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