NM_000520.5:c.78G>A

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  2. NM_000520.5:c.78G>A

HGVS Expressions

  • NG_009017.2:g.5285G>A
  • NM_000520.5:c.78G>A
  • NP_000511.2:p.Trp26Ter
  • NC_000015.10:g.72375895C>T

Associated Genes

Hexosaminidase A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121907964

Clinvar

3911

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.10.1Palestine1Drucker et al., 1993 Mother of patient with Tay-Sachs Disease...
272800.10.2Palestine1Drucker et al., 1993 Father of patient with Tay-Sachs Disease...
272800.10.3Palestine1Drucker et al., 1993 Brother of patient with Tay-Sachs Diseas...
272800.12Saudi Arabia2PathogenicTay-Sachs DiseaseKaya et al. 2011
272800.15Palestine1PathogenicTay-Sachs DiseaseKaya et al. 2011 Compound heterozygous
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Contributors

  • Pratibha Nair: 16.07.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Sami Bizzari: 05.09.2022
  • Pratibha Nair: 25.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.