NM_000520.5:c.1444G>A

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HGVS Expressions

  • NG_009017.2:g.35652G>A
  • NM_000520.5:c.1444G>A
  • NP_000511.2:p.Glu482Lys
  • NC_000015.10:g.72345528C>T

Associated Genes

Hexosaminidase A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

121907952

Clinvar

3892

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.19Morocco1Kaufman et al. 1997 Moroccan Jewish carrier
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Contributors

  • Pratibha Nair: 16.07.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Pratibha Nair: 25.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.