NM_000410.3:c.187C>G

HGVS Expressions

  • NG_008720.2:g.8671C>G
  • NM_000410.3:c.187C>G
  • NP_000401.1:p.His63Asp

Associated Genes

HFE Gene
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Genomic Location

chr6:26090951

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1799945

Clinvar

10

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613609.1.1Lebanon13PathogenicDaher et al, 2011; Mahfouz et al, 2012 Group of 13 healthy volunteers. Percent ...
613609.1.2Lebanon15PathogenicDaher et al, 2011; Mahfouz et al, 2012 Group of 15 healthy volunteers. No signi...
613609.1.3Lebanon4PathogenicDaher et al, 2011; Mahfouz et al, 2012 Group of 2 healthy volunteers. No signif...
613609.2.1Libya17PathogenicElmrghni et al. 2011 Group of 17 individuals
613609.4.1Algeria17PathogenicRoth et al. 1997 Group of 17 healthy individuals
114550.G.1.1Morocco3420.8%PathogenicHepatocellular CarcinomaEzzikouri et al. 2008 Group of 34 patients
114550.G.1.2Morocco620.8%PathogenicHepatocellular CarcinomaEzzikouri et al. 2008 Group of 3 patients
114550.G.1.3Morocco6014.4%PathogenicEzzikouri et al. 2008 Group of 60 healthy controls
114550.G.1.4Morocco414.4%PathogenicEzzikouri et al. 2008 Group of 2 healthy controls
613609.G.1.1Saudi Arabia1290.177PathogenicAlsmadi et al. 2006 Group of 129 individuals. Blood samples ...
613609.G.1.2Saudi Arabia620.177PathogenicAlsmadi et al. 2006 Group of 31 individuals. Blood samples w...
613609.G.2.1Morocco613.2%±3.6%PathogenicAguilar-Martinez et al. 2001 Group of 3 newborns with Moroccan and Al...
613609.G.2.2Morocco7813.2%±3.6%PathogenicAguilar-Martinez et al. 2001 Group of 39 newborns with Moroccan and A...
613609.G.4.1Tunisia2625.8%PathogenicSassi et al. 2004 13 homozygous individuals out of 570 hea...
613609.G.4.2Tunisia14725.8%PathogenicSassi et al. 2004 147 heterozygous individuals out of 570 ...
613609.G.5.1Egypt8PathogenicSettin et al. 2006 8 heterozygous individuals out of 48 cas...
613609.G.5.2Egypt15PathogenicSettin et al. 2006 15 heterozygous individuals out of 70 he...
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