NM_000237.3:c.858T>A

HGVS Expressions

  • NG_008855.2:g.59207T>A
  • NM_000237.3:c.858T>A
  • NP_000228.1:p.Ser286Arg
  • NC_000008.11:g.19955923T>A

Associated Genes

Lipoprotein Lipase
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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
238600.3.1Morocco2NALikely PathogenicHyperlipoproteinemia, Type IFoubert et al. 1997 Proband 1 from Family 1 in the publicati...
238600.3.2Morocco1NAFoubert et al. 1997 Father of 238600.3.1
238600.3.3Morocco1NAFoubert et al. 1997 Mother of 238600.3.1
238600.3.4Morocco1NAFoubert et al. 1997 Sister of 238600.3.1
238600.3.5Morocco1NAFoubert et al. 1997 Sister of 238600.3.1
238600.3.6Morocco1NAFoubert et al. 1997 Brother of 238600.3.1
238600.4.1Morocco2NALikely PathogenicHyperlipoproteinemia, Type IFoubert et al. 1997 Proband 2 from Family 2 in the publicati...
238600.4.2Morocco1NAFoubert et al. 1997 Father of 238600.4.1
238600.4.3Morocco1NAFoubert et al. 1997 Mother of 238600.4.1
238600.4.4Morocco1NAFoubert et al. 1997 Brother of 238600.4.1
238600.4.5Morocco1NAFoubert et al. 1997 Sister of 238600.4.1
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