NM_000243.3:c.-397C>G

HGVS Expressions

  • NG_007871.1:g.4644C>G
  • NM_000243.3:c.-397C>G
  • NC_000016.9:g.3306984G>C
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.12Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
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