NM_000520.5:c.540C>G

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  2. NM_000520.5:c.540C>G

HGVS Expressions

  • NG_009017.2:g.28082C>G
  • NM_000520.5:c.540C>G
  • NP_000511.2:p.Tyr180Ter
  • NC_000015.10:g.72353098G>C

Associated Genes

Hexosaminidase A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121907969

Clinvar

3919

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.6.1Morocco1PathogenicTay-Sachs DiseaseNavon and Proia, 1991 Moroccan Jew; Compound heterozygous
272800.6.3Morocco1PathogenicNavon and Proia, 1991 Mother of 272800.6.1
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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.