NM_020247.5:c.1534C>T

HGVS Expressions

  • NG_012825.1:g.49667C>T
  • NM_020247.5:c.1534C>T
  • NP_064632.2:p.Arg512Trp
  • NC_000001.11:g.226984903C>T

Associated Genes

Coenzyme Q8A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1706962

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616449.2Lebanon2Likely PathogenicNair et al. 2019
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