NM_000548.5:c.1754G>A

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HGVS Expressions

  • NG_005895.1:g.26188G>A
  • NM_000548.5:c.1754G>A
  • NP_000539.2:p.Arg585His
  • NC_000016.10:g.2070493G>A

Associated Genes

TSC2 Gene
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

397515063

Clinvar

65084

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300908.12United Arab Emirates1NAUncertain SignificanceMahfouz et al. 2020 In addition to the G6PD variant, the pat...
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Contributors

  • Asha Deepthi: 13.07.2022

Edit History

  • Asha Deepthi: 13.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.