NM_000520.5:c.1510delC

HGVS Expressions

  • NG_009017.2:g.35718del
  • NM_000520.5:c.1510delC
  • NP_000511.2:p.Arg504AlafsTer5
  • NC_000015.10:g.72345463del

Associated Genes

Hexosaminidase A
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Clinvar Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

3894

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.G.6Iraq4Karpati et al. 2004 4 Iraqi Jews
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