Mutation Details for c.1586A>G
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cDNA Name
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c.1586A>G
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Protein Name
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p.Asp529Gly
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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D529G
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Other Details
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This mutation was identified on one German chromosome by sequencing of the whole CFTR gene.
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Contributors
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Brakensiek,K, Frye-Boukhriss,H, Stuhrmannn, M
2007-06-26
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Institute
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Institute of Human Genetics, Hannover Med. School, Germany
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Submitted Phenotype Details
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The patient with the clinical diagnosis of CF (male , 17 y) is carrying [delta]F508 on his other allele. No clinical information is available.
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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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