NM_024618.4:c.1480G>A

HGVS Expressions

  • NG_047185.1:g.11750G>A
  • NM_024618.4:c.1480G>A
  • NP_078894.2:p.Val494Met
  • NC_000011.10:g.119175083G>A

Associated Genes

NLR Family Member X1
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.42Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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