HGVS Expressions

  • NG_016003.1:g.27807C>G
  • NM_207585.2:c.611C>G
  • NP_997468.1:p.Thr204Arg
  • NC_000021.9:g.33252732C>G
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Clinvar Clinical Significance

Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type




Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.6Lebanon1Uncertain SignificanceUmar et al, 2020
249100.7Lebanon1Uncertain SignificanceUmar et al, 2020
249100.8Lebanon1Uncertain SignificanceUmar et al, 2020
249100.9Lebanon1Uncertain SignificanceUmar et al, 2020
249100.14Lebanon1Uncertain SignificanceUmar et al, 2020
249100.25LebanonUncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
249100.29Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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