NM_022168.4:c.2597C>T

HGVS Expressions

  • NG_011495.1:g.51285C>T
  • NM_022168.4:c.2597C>T
  • NP_071451.2:p.Pro866Leu
  • NC_000002.12:g.162272245G>A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

541773

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.39Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
249100.40Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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