NM_000521.3:c.1597C>T

HGVS Expressions

  • NG_009770.2:g.85709C>T
  • NM_000521.3:c.1597C>T
  • NP_000512.1:p.Arg533Cys
  • NC_000005.10:g.74720731C>T

Associated Genes

Hexosaminidase B
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

435415

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268800.1Saudi Arabia2PathogenicSandhoff DiseaseKaya et al. 2011
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