Mutation Details for c.4367G>A
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.4367G>A
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Protein Name
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p.Ser1456Asn
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Exon or Intron
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Other Details
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Contributors and Institutes
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Krenkova P., Macek Jr. M - Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic | - | |
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Submitted Phenotype Details
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Found at CF patient's healthy father and sibling carrying on the second allele p.Ser1455X and p.Phe508del, respectively. This variant produced no phenotype manifestation.
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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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