NM_000521.4:c.826_829del

HGVS Expressions

  • NG_009770.2:g.78538_78541del
  • NM_000521.4:c.826_829del
  • NP_000512.2:p.Glu276MetfsTer30
  • NC_000005.10:g.74713560_74713563del

Associated Genes

Hexosaminidase B
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268800.6United Arab Emirates2Likely PathogenicSandhoff DiseaseAl-Shamsi et al. 2016
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