Mutation Details for c.1694A>G
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cDNA Name
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c.1694A>G
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Protein Name
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p.Asp565Gly
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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D565G
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Other Details
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Additional consequence: splicing mutation (mRNA analysis proves that mutation causes exon 12 skipping)
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Contributors
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Tzetis M.,
2002-01-01
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Institute
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Department of Medical Genetics University of Athens St Sophia's Children's Hospital
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Submitted Phenotype Details
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The mutation was identified in 2 patients, one male with CBAVD, diagnosed in adulthood, with a mild phenotype (PS, mild pulmonary symptoms and sweat chloride less then 40 mmol/l) and one female (16 years old) with mild pulmonary symptoms, Staph. Aureus infections and nasal polyps, PS and sweat chloride 70 mmol/l. Both carried unknown other mutation. (pers.corr. Tzetis)
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Reference
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Tzetis et al. Hum Genet; 109:592-601,2001
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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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