NM_000527.4:c.272del

HGVS Expressions

  • NG_009060.1:g.18365del
  • NM_000527.4:c.272del
  • NP_000518.1:p.Gly91fs
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Genomic Location

chr19:11102745

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

623312

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.48.1Oman2PathogenicHypercholesterolemia, Familial, 1Al-Hinai et al. 2013; Al-Rasadi et al, 2014 Proband
143890.48.2Oman2PathogenicHypercholesterolemia, Familial, 1Al-Hinai et al. 2013; Al-Rasadi et al, 2014 Father of 143890.48.1
143890.48.3Oman2PathogenicHypercholesterolemia, Familial, 1Al-Hinai et al. 2013; Al-Rasadi et al, 2014 Sister of 143890.48.1
143890.48.4Oman2PathogenicHypercholesterolemia, Familial, 1Al-Hinai et al. 2013; Al-Rasadi et al, 2014 Sister of 143890.48.1
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