NM_000548.5:c.1832G>A

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HGVS Expressions

  • NG_005895.1:g.26266G>A
  • NM_000548.5:c.1832G>A
  • NP_000539.2:p.Arg611Gln

Associated Genes

TSC2 Gene
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Genomic Location

chr16:2070571

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

28934872

Clinvar

12397

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613254.1Lebanon1PathogenicTuberous Sclerosis 2Nair et al. 2018
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Contributors

  • Pratibha Nair: 28.04.2020

Edit History

  • Pratibha Nair: 28.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.