NM_000243.3:c.2040G>C

HGVS Expressions

  • NG_007871.1:g.18181G>C
  • NM_000243.3:c.2040G>C
  • NP_000234.1:p.Met680Ile
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Genomic Location

chr16:3243447

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

36507

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.9Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.11Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.G.1.5Lebanon18PathogenicFamilial Mediterranean FeverSabbagh et al, 2008 Group of patients including 3 homozygote...
249100.G.3.3Jordan89.5%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al, 2000 Group of patients including 1 homozygote...
249100.G.4.4Lebanon477.4%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005 Group of unrelated patients
249100.G.5.4Jordan1012.8%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005 Group of unrelated patients
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