NM_000201.2:c.1405A>G

HGVS Expressions

  • NG_012083.1:g.19167A>G
  • NM_000201.2:c.1405A>G
  • NP_000192.2:p.Lys469Glu
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Genomic Location

chr19:10285007

CTGA Clinical Significance

Risk factor

Variant Type

Substitution

dbSNP

5498

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
109650.G.1Lebanon17Risk factorBehçet SyndromeChmaisse et al. 2006 Group of 17 patients
109650.G.2Lebanon12Risk factorBehçet SyndromeChmaisse et al. 2006 Group of 6 patients
109650.G.3Lebanon5Risk factorChmaisse et al. 2006 Group of 5 unaffected controls
109650.G.4JordanRisk factorBehçet SyndromeVerity et al. 2000 Association study with 83 patients and 1...
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