NM_153007.5:c.501G>A

HGVS Expressions

  • NM_153007.5:c.501G>A
  • NP_694552.2:p.Trp167Ter
  • NC_000017.11:g.8345389G>A
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
258150.15Saudi Arabia2Likely PathogenicAlhathal et al. 2020
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