Mutation Details for c.3136G>T
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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.3136G>T
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Protein Name
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p.Glu1046X
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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. She was diagnosed at the age of 15 months. Sweat chloride concentration 112 mmol/l, rectal prolapse, diarrhoea, fecal elastase < 15 µg/g, cough
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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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