APOE*4 Allele NM_000041.4:c.[388T>C;526=]

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  2. APOE*4 Allele NM_000041.4:c.[388T>C;526=]

HGVS Expressions

  • NG_007084.2:g.[7903T>C;8041=]
  • NM_000041.4:c.[388T>C;526=]
  • NP_000032.1:p.Cys130Arg
  • NC_000019.10:g.[44908684T>C;44908822=]

Associated Genes

Apolipoprotein E
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Risk factor, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Haplotype

dbSNP

429358 7412

Clinvar

17864

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
107741.1Lebanon1Uncertain SignificanceMahfouz et al. 2013 The study found no associations.
107741.G.6Lebanon8Uncertain SignificanceMahfouz et al. 2013 5 males and 3 females. The study found n...
125853.G.10.1Lebanon507NAType 2 Diabetes MellitusAtageldiyeva et al, 2019 Group consisting of 825 T2DM patients wi...
125853.G.10.2Lebanon346NAType 2 Diabetes MellitusAtageldiyeva et al, 2019 Group consisting of 597 T2DM patients wi...
125853.G.10.3Lebanon560NAAtageldiyeva et al, 2019 Group consisting of 1389 control subject...
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Contributors

  • Sami Bizzari: 15.03.2021

Edit History

  • Pratibha Nair: 08.06.2021
  • Asha Deepthi: 31.05.2021
  • Sami Bizzari: 16.03.2021
  • Sami Bizzari: 15.03.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.