Mutation Details for c.2204G>A
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cDNA Name
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c.2204G>A
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Protein Name
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p.Arg735Lys
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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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R735K
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Other Details
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The mutation was found in a Romanian CF patient whose other mutation is as yet unidentified, and we have seen it only once.
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Contributors
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Benga G,
Frentescu L,
Shaw H,
Hinks J,
Brownsell E,
Malone G M,
Schwarz M J
2001-11-30
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Institute
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Royal Manchester Children's Hospital
England, UK
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Submitted Phenotype Details
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The Romanian CF patient carries an unidentified mutation on the other allele.
(pers. corr.Schwarz)
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Reference
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Benga et al. 2001
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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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