NM_000243.3:c.442G>C

HGVS Expressions

  • NG_007871.1:g.7002G>C
  • NM_000243.3:c.442G>C
  • NP_000234.1:p.Glu148Gln
  • NC_000016.10:g.3254626C>G
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Clinvar Clinical Significance

Benign, Likely Benign, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

3743930

Clinvar

2542

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.7Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
249100.44United Arab Emirates1Uncertain SignificanceFamilial Mediterranean FeverFathalla et al. 2021 Deletion variant harbored involves exons...
249100.45Lebanon; United Arab Emir...1Uncertain SignificanceFamilial Mediterranean FeverFathalla et al. 2021
249100.G.1.3Lebanon4622.2%PathogenicFamilial Mediterranean FeverSabbagh et al, 2008 Group of patients including 7 homozygote...
249100.G.2.4Lebanon2PathogenicFamilial Mediterranean FeverMedlej-Hashim et al, 2011 Group of 2 compound heterozygote FMF pat...
249100.G.3.4Jordan67.1%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al, 2000 Group of 6 heterozygote patients
249100.G.4.5Lebanon538.3%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005 Group of unrelated patients
249100.G.5.5Jordan56.4%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005 Group of unrelated patients
249100.G.6.4Lebanon8%PathogenicFamilial Mediterranean FeverMansour et al. 2001 Group of unrelated Lebanese patients
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