Mutation Details for c.1526G>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.1526G>A
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Protein Name
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p.Gly509Asp
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Nikola Ptakova, Malgorzata Libik, Andrea Holubova | - | Department of Biology and Medical Genetics, University Hospital Motol, Prague, Czech Republic |
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Submitted Phenotype Details
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Patient with positive newborn screening for cystic fibrosis. Sweat test 28... 29 mmol/l. CF-SPID. Noncompliant family.
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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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