NM_000521.4:c.272G>C

HGVS Expressions

  • NG_009770.2:g.50510G>C
  • NM_000521.4:c.272G>C
  • NP_000512.2:p.Cys91Ser
  • NC_000005.10:g.74685532G>C

Associated Genes

Hexosaminidase B
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

374340

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268800.5United Arab Emirates2PathogenicSandhoff DiseaseAl-Shamsi et al. 2016 Low serum hexosaminidase activity
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