NM_000521.3:c.1169+3_1169+10delAAGTTGTT

HGVS Expressions

  • NG_009770.2:g.81654_81661del
  • NM_000521.3:c.1169+3_1169+10delAAGTTGTT
  • NP_000512.1:p.?
  • NC_000005.10:g.74716676_74716683del

Associated Genes

Hexosaminidase B
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

93195

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268800.2Saudi Arabia2Likely PathogenicSandhoff DiseaseKaya et al. 2011
268800.3Saudi Arabia2Likely PathogenicSandhoff DiseaseKaya et al. 2011
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