NM_006096.4:c.761del

HGVS Expressions

  • NG_007943.1:g.54335del
  • NM_006096.4:c.761del
  • NP_006087.2:p.Pro254LeufsTer67
  • NC_000008.11:g.133247923del
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

3362561

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601455.1Saudi Arabia2Likely PathogenicCharcot-Marie-Tooth Disease, Demyelinating, Type 4DMonies et al. 2017
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