NM_000410.3:c.845G>A

HGVS Expressions

  • NG_008720.2:g.10633G>A
  • NM_000410.3:c.845G>A
  • NP_000401.1:p.Cys282Tyr

Associated Genes

HFE Gene
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Genomic Location

chr6:26092913

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1800562

Clinvar

9

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114550.1.1Morocco10.5%PathogenicHepatocellular CarcinomaEzzikouri et al. 2008
613609.5.1Tunisia10.09%PathogenicSassi et al. 2004 1 heterozygous individual out of 570 hea...
613609.G.2.3Morocco30.9%PathogenicAguilar-Martinez et al. 2001 Group of 3 newborns with Moroccan and Al...
613609.G.3Morocco<0.0031PathogenicSamilchuk et al. 1998
1114550.G.1.5Morocco30.7%PathogenicEzzikouri et al. 2008 Group of 3 healthy controls.
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