NM_000237.3:c.602A>T

HGVS Expressions

  • NG_008855.2:g.57464A>T
  • NM_000237.3:c.602A>T
  • NP_000228.1:p.Asp201Val
  • NC_000008.11:g.19954180A>T

Associated Genes

Lipoprotein Lipase
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
238600.1.1Lebanon2NAUncertain SignificanceHyperlipoproteinemia, Type IAbifadel et al. 2004 Proband from family 'LHTGa' in the publi...
238600.1.2Lebanon1NAAbifadel et al. 2004 Father of 238600.1.1
238600.1.3Lebanon1NAAbifadel et al. 2004 Mother of 238600.1.1
238600.1.4Lebanon1NAAbifadel et al. 2004 Brother of 238600.1.1
238600.1.5Lebanon1NAAbifadel et al. 2004 Sister of 238600.1.1
238600.1.6Lebanon1NAAbifadel et al. 2004 Sister of 238600.1.1
238600.1.7Lebanon1NAAbifadel et al. 2004 Paternal uncle of 238600.1.1
238600.1.8Lebanon1NAAbifadel et al. 2004 Paternal grandmother of 238600.1.1
238600.2.1Lebanon2NAUncertain SignificanceHyperlipoproteinemia, Type IAbifadel et al. 2004 Proband from family 'LHTGb' in the publi...
238600.2.2Lebanon1NAAbifadel et al. 2004 Father of 238600.2.1
238600.2.3Lebanon1NAAbifadel et al. 2004 Mother of 238600.2.1
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