Mutation Details for c.3196C>G
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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.3196C>G
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Protein Name
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p.Arg1066Gly
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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., Piskáčková T., 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 in one Czech female CF patient carrying F508del on the other allele. Diagnosed at the age of two years. Sweat chloride concentration 100 mmol/l, pancreatic insufficient.
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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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