NM_000243.3:c.2082G>A

HGVS Expressions

  • NG_007871.1:g.18223G>A
  • NM_000243.3:c.2082G>A
  • NP_000234.1:p.Met694Ile
  • NC_000016.10:g.3243405C>T
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

2539

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.1.1Jordan11.2%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al, 2000
249100.9Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.11Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.14Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.21Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.45Lebanon; United Arab Emir...1PathogenicFamilial Mediterranean FeverFathalla et al. 2021
249100.G.1.6Lebanon209.6%PathogenicFamilial Mediterranean FeverSabbagh et al, 2008 Group of patients including 3 homozygote...
249100.G.2.1Lebanon21PathogenicFamilial Mediterranean FeverMedlej-Hashim et al, 2011 Group of FMF patients including 1 homozy...
249100.G.2.6Lebanon15PathogenicMedlej-Hashim et al, 2011 Group of healthy members including 1 hom...
249100.G.4.3Lebanon8212.8%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005 Group of unrelated patients (homozygous ...
249100.G.5.3Jordan22.6%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005 Group of unrelated heterozygous patients
249100.G.6.3Lebanon9%PathogenicFamilial Mediterranean FeverMansour et al. 2001 Group of unrelated Lebanese patients
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