NM_000527.5:c.1429G>A

HGVS Expressions

  • NG_009060.1:g.29225G>A
  • NM_000527.5:c.1429G>A
  • NP_000518.1:p.Asp477Asn
  • NC_000019.10:g.11113605G>A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

251838

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.57United Arab Emirates1NALikely PathogenicHypercholesterolemia, Familial, 1Rimbert et al. 2021 'Patient 218' in the publication
143890.60United Arab Emirates1NALikely PathogenicHypercholesterolemia, Familial, 1Rimbert et al. 2021 'Patient 423' in the publication. This p...
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