NM_001097642.2:c.164_184dup

HGVS Expressions

  • NG_008357.1:g.13660_13680dup
  • NM_001097642.2:c.164_184dup
  • NP_001091111.1:p.Thr55_An61dup
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Genomic Location

chrX:71223871-71223891

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

477589

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
302800.1Lebanon1PathogenicCharcot-Marie-Tooth Disease, X-Linked Dominant, 1Nair et al. 2018
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