NM_000521.4:c.170G>A

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  2. NM_000521.4:c.170G>A

HGVS Expressions

  • NG_009770.2:g.50408G>A
  • NM_000521.4:c.170G>A
  • NP_000512.2:p.Trp57Ter
  • NC_000005.10:g.74685430G>A

Associated Genes

Hexosaminidase B
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1114167287

Clinvar

242876

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268800.7.1Saudi Arabia2Likely PathogenicSandhoff DiseaseCharng et al. 2016 Proband from 'family 002' in the publica...
268800.7.2Saudi Arabia1Charng et al. 2016 Father of 268800.7.1
268800.7.3Saudi Arabia1Charng et al. 2016 Mother of 268800.7.1
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Contributors

  • Asha Deepthi: 04.08.2024

Edit History

  • Asha Deepthi: 04.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.