NM_001302688.2:c.604C>T

HGVS Expressions

  • NG_007084.2:g.8041C>T
  • NM_001302688.2:c.604C>T
  • NP_001289617.1:p.Arg202Cys

Associated Genes

Apolipoprotein E
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Genomic Location

chr19:44908822

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Benign, Likely Benign, Pathogenic

Variant Type

Substitution

dbSNP

7412

Clinvar

441266

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
104300.G.1.1Lebanon0.06Likely BenignEl Shamieh et al. 2018 78 patients with Alzheimer disease
104300.G.1.2Lebanon0.06Likely BenignEl Shamieh et al. 2018 56 control subjects over the age of 60
107741.G.1Lebanon230.072PathogenicMahfouz et al. 2006 160 healthy control subjects
107741.G.2Lebanon22PathogenicAlmawi et al. 1999 155 healthy control subjects
107741.G.3Lebanon0.07BenignEl Shamieh et al. 2018 457 healthy control subjects. c.466C>T w...
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