Alpha NM_199161.5:c.[209C>T;224T>C]

HGVS Expressions

  • NG_021330.1:g.[8052C>T;8067T>C]
  • Alpha NM_199161.5:c.[209C>T;224T>C]
  • NP_954630.2:p.[Ala70Val;Val75Ala]
  • NC_000011.10:g.[18269312C>T;18269327T>C]

Associated Genes

Serum Amyloid A1
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Clinical Significance

Likely Pathogenic

Variant Type

Haplotype

Clinvar

18108

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
249100.G.7.1Jordan; Lebanon2Likely PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2004 Group of 11 FMF patients with Amyloidosi...
249100.G.7.2Jordan; Lebanon2Likely PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2004 Group of 10 FMF patients without Amyloid...
249100.G.7.3Jordan; Lebanon1Likely PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2004 Group of 16 FMF patients with Amyloidosi...
249100.G.7.4Jordan; Lebanon1Likely PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2004 Group of 15 FMF patients without Amyloid...
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