NM_000548.5:c.3295G>A

HGVS Expressions

  • NG_005895.1:g.35262G>A
  • NM_000548.5:c.3295G>A
  • NP_000539.2:p.Gly1099Arg
  • NC_000016.10:g.2079567G>A

Associated Genes

TSC2 Gene
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

405978

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613254.3Saudi Arabia1Uncertain SignificanceTuberous Sclerosis 2Monies et al. 2017
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