Mutation Details for c.4097T>A
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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.4097T>A
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Protein Name
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p.Ile1366Asn
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Ferec C., Audrezet MP, Chen JM - INSERM, U613 (Génétique Moléculaire et Génétique Epidémiologique), Brest, France 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 CFTRdele2,3 on the other allele. Sweat chloride concentration 51-58 mmol/l., rectal prolapse, pancreatic sufficient.
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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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