Mutation Details for c.567C>A
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cDNA Name
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c.567C>A
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Protein Name
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p.Asn189Lys
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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N189K
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Other Details
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This is a new mutation.
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Contributors
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Li N, Pu D-F, Pei P, Wang G-F, Li H-Ch
2004-09-25
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Institute
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Department of Pulmonary Disease, Central Laboratory, First Hospital of Peking University, P.R.China
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Submitted Phenotype Details
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The Chinese girl (16y) was diagnosed as CF since 14. She presented recurrent productive cough with bilateral bronchiectasis especially obvious in upper right lung, parasinusitis and otitis media. Her sweat chloride and sodium were 108.9?3.3mmol/L and 126.6?5.4 mmol/L (n=3), respectively. She carried two heterozygous mutations, N189K from her father and 3821-3823delT from her mother in CFTR gene. Her parents had normal phenotype.
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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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