Mutation Details for c.3367G>C
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cDNA Name
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c.3367G>C
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Protein Name
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p.Gly1123Arg
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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G1123R
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Other Details
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This missense mutation in exon 17B of the CFTR gene was detected by SSCP/heteroduplex analysis followed by direct sequencing. G1123R may also affect splicing since the final base of an exon tends to be a G residue. We have observed this mutation only once in an English patient. We have also observed the 1461ins4 mutation, furst reported by Zielinski et al. (NL #52), in two unrelated English CF patients. This mutation may be worth screening for an uncharacterized CF chromosomes from the UK.
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Contributors
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Wallace A,
Tassabehji M
1993-11-24
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Institute
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St. Mary's Hospital
Manchester, UK
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Submitted Phenotype Details
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Reference
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Wallace & Tassabehji (NL#60)
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