NM_001302688.2:c.466T>C

HGVS Expressions

  • NG_007084.2:g.7903T>C
  • NM_001302688.2:c.466T>C
  • NP_001289617.1:p.Cys156Arg

Associated Genes

Apolipoprotein E
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Genomic Location

chr19:44908684

Clinvar Clinical Significance

Association

CTGA Clinical Significance

Association

Variant Type

Substitution

dbSNP

429358

Clinvar

441269

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
104300.G.1.1Lebanon0.21AssociationAlzheimer DiseaseEl Shamieh et al. 2018 78 patients with Alzheimer disease
104300.G.1.2Lebanon0.08AssociationEl Shamieh et al. 2018 56 control subjects over the age of 60
107741.G.1Lebanon270.08AssociationMahfouz et al. 2006 160 healthy control subjects
107741.G.2Lebanon15AssociationAlmawi et al. 1999 155 healthy control subjects
107741.G.3Lebanon0.06AssociationEl Shamieh et al. 2018 457 healthy control subjects. c.466C>T w...
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