NM_000243.3:c.2282G>A

HGVS Expressions

  • NG_007871.1:g.18423G>A
  • NM_000243.3:c.2282G>A
  • NP_000234.1:p.Arg761His
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Genomic Location

chr16:3243205

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

2549

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.G.1.8Lebanon52.4%PathogenicFamilial Mediterranean FeverSabbagh et al, 2008 Group of patients including 2 compound h...
249100.G.2.5Lebanon2PathogenicFamilial Mediterranean FeverMedlej-Hashim et al, 2011 Group of 2 compound heterozygote FMF pat...
249100.G.2.9Lebanon4PathogenicMedlej-Hashim et al, 2011 Group of healthy members including 3 com...
249100.G.4.6Lebanon203.1%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005 Group of unrelated patients
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