NM_000548.5:c.4830G>A

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HGVS Expressions

  • NG_005895.1:g.42055G>A
  • NM_000548.5:c.4830G>A
  • NP_001305758.1:p.Trp1495Cys
  • NC_000016.10:g.2086360G>A

Associated Genes

TSC2 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

45517372

Clinvar

49841

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613254.2Saudi Arabia1PathogenicTuberous 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.