NM_000521.3:c.94C>T

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HGVS Expressions

  • NG_009770.2:g.50332C>T
  • NM_000521.3:c.94C>T
  • NP_000512.1:p.Gln32Ter
  • NC_000005.10:g.74685354C>T

Associated Genes

Hexosaminidase B
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1554034434

Clinvar

800874

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268800.4Saudi ArabiaLikely PathogenicSandhoff DiseaseKaya et al. 2011
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Contributors

  • Pratibha Nair: 20.05.2018

Edit History

  • Sami Bizzari: 12.09.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 05.07.2020
  • Pratibha Nair: 24.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.