Mutation Details for c.1684G>C
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cDNA Name
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c.1684G>C
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Protein Name
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p.Val562Leu
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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V562L
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Other Details
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V562L was detected by DGGE analysis, followed by direct fluorescent sequencing. It was detected in one patient from 220 in Northern Ireland. The other CF allele is presently unknown.
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Contributors
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Hughes D,
Hill A,
Graham
1995-01-04
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Institute
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Belfast City Hospital,
Northern Ireland
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Submitted Phenotype Details
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(Hughes et all 1996)
The patient (male, 9 yrs) has PS and mild CF
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Reference
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Hughes et al. (NL#65)
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