NM_000548.5:c.5138G>A

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HGVS Expressions

  • NG_005895.1:g.43812G>A
  • NM_000548.5:c.5138G>A
  • NP_000539.2:p.Arg1713His
  • NC_000016.10:g.2088117G>A

Associated Genes

TSC2 Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

45517395

Clinvar

49930

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613254.4Saudi Arabia1Uncertain SignificanceTuberous Sclerosis 2Monies et al. 2017
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Contributors

  • Asha Deepthi: 19.12.2024

Edit History

  • Asha Deepthi: 19.12.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.