NM_000243.3:c.2177T>C

HGVS Expressions

  • NG_007871.1:g.18318T>C
  • NM_000243.3:c.2177T>C
  • NP_000234.1:p.Val726Ala
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Genomic Location

chr16:3243310

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

2540

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.4Lebanon2PathogenicFamilial Mediterranean FeverJalkh et al. 2019
249100.6Lebanon2PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.7Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.8Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.10Lebanon2PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.25Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.G.1.2Lebanon4221.3%PathogenicFamilial Mediterranean FeverSabbagh et al, 2008 Group of patients including 7 homozygote...
249100.G.2.2Lebanon24PathogenicFamilial Mediterranean FeverMedlej-Hashim et al, 2011 Group of FMF patients including 1 homozy...
249100.G.2.7Lebanon15PathogenicMedlej-Hashim et al, 2011 Group of healthy members including 4 com...
249100.G.3.2Jordan1214.3%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al, 2000 Group of 12 heterozygote patients
249100.G.4.2Lebanon12419.4%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005 Group of unrelated patients (homozygous ...
249100.G.5.2Jordan1519.2%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005 Group of unrelated patients (homozygous ...
249100.G.6.2Lebanon20%PathogenicFamilial Mediterranean FeverMansour et al. 2001 Group of unrelated Lebanese patients
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