NM_000520.5:c.509G>A

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  2. NM_000520.5:c.509G>A

HGVS Expressions

  • NG_009017.2:g.28051G>A
  • NM_000520.5:c.509G>A
  • NP_000511.2:p.Arg170Gln
  • NC_000015.10:g.72353129C>T

Associated Genes

Hexosaminidase A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

121907957

Clinvar

3900

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.2Iraq1Karpati et al. 2004 Iraqi Jew
272800.9Morocco1Drucker et al. 1992 Moroccan Jew
272800.G.8Morocco19Kaufman et al. 1997 19 Moroccan Jewish carriers
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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.