Mutation Details for c.1067G>C
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cDNA Name
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c.1067G>C
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Protein Name
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p.Trp356Ser
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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W356S
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Other Details
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Contributors
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Barbolina I, H Shaw, J Hinks, G Malone, Inglis E, Schwarz MJ.
2004-06-16
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Institute
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Royal Manchester Childrens Hospital
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Submitted Phenotype Details
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1 year-old Pakistani boy with persistent chest infections. Pre-term baby with delayed functioning of bowels. Heterozygous for this mutation: no other mutation found.
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Reference
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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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