NM_000243.3:c.2080A>G

HGVS Expressions

  • NG_007871.1:g.18221A>G
  • NM_000243.3:c.2080A>G
  • NP_000234.1:p.Met694Val
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Genomic Location

chr16:3243407

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

2538

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.5Lebanon2PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.8Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.12Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.13Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.15Lebanon2PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.18Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.19Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.22Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.23Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.24Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
608068.1Lebanon1Likely PathogenicMasters et al. 2016
249100.G.1.1Lebanon5426.1%PathogenicFamilial Mediterranean FeverSabbagh et al, 2008 Group of patients including 12 homozygot...
249100.G.2.3Lebanon11PathogenicFamilial Mediterranean FeverMedlej-Hashim et al, 2011 Group of FMF patients including 2 homozy...
249100.G.2.8Lebanon4PathogenicMedlej-Hashim et al, 2011 Group of healthy members including 1 com...
249100.G.3.1Jordan1720.2%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al, 2000 Group of patients including 7 homozygote...
249100.G.4.1Lebanon19430.3%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005 Group of unrelated patients (homozygous ...
249100.G.5.1Jordan2734.6%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005 Group of unrelated patients (homozygous ...
249100.G.6.1Lebanon27%PathogenicFamilial Mediterranean FeverMansour et al. 2001 Group of unrelated Lebanese patients
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