NM_003839.4:c.1234G>T

HGVS Expressions

  • NG_008098.1:g.48837G>T
  • NM_003839.4:c.1234G>T
  • NP_003830.1:p.Asp412Tyr
  • NC_000018.10:g.62369151G>T
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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
249100.25Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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