Mutation Details for c.533G>A
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cDNA Name
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c.533G>A
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Protein Name
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p.Gly178Glu
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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G178E
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Other Details
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The patient inherited this mutation from her father. This mutation was not found in a sample of 50 Czech random controls and was not found in other screened CF patients with yet unidentified alleles. The other allele in trans is F508del.
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Contributors
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Soldatova I, Hemrova T, Krepelova A, Vavrova V, Honomichlova H, Holubova A, Macek Jr. M.
2004-09-22
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Institute
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Institute of Biology and Medical Genetics P Cystic Fibrosis Center, University Hospital Motol, Prague, Czech Republic <p>
tel: + 420 224 439 548 /including voice mail/ <p>
FAX: + 420 224 433 520 <p>
Milan.Macek.Jr@LFMOTOL.CUNI.CZ <p>
WebSite http://ublg.lf2.cuni.cz/e_cf.html
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Submitted Phenotype Details
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The patient has classical form of CF and was diagnosed at the age of 2 months. Her sweat chloride concentration is 110 mmol/l.
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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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