NM_017563.5:c.1696C>T

HGVS Expressions

  • NG_047158.1:g.77311C>T
  • NM_017563.5:c.1696C>T
  • NP_060033.3:p.Pro566Ser
  • NC_000003.12:g.57098007G>A
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

1225547

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.41Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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