NM_000520.5:c.533G>A

HGVS Expressions

  • NG_009017.2:g.28075G>A
  • NM_000520.5:c.533G>A
  • NP_000511.2:p.Arg178His
  • NC_000015.10:g.72353105C>T

Associated Genes

Hexosaminidase A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

3896

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.15Palestine1PathogenicTay-Sachs DiseaseKaya et al. 2011 Compound heterozygous
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