NM_006446.5:c.521T>C

HGVS Expressions

  • NG_011745.1:g.52422T>C
  • NM_006446.5:c.521T>C
  • NP_006437.3:p.Val174Ala
  • NC_000012.12:g.21178615T>C
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Clinvar Clinical Significance

Drug Response

CTGA Clinical Significance

Association

Variant Type

Substitution

dbSNP

4149056

Clinvar

37346

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
171050.G.1United Arab Emirates0.187Al-Mahayri et al. 2020 100 (52 females, 48 males) normal health...
603174.G.1LebanonAssociationHomocysteinemiaGhassibe-Sabbagh et al. 2012 1110 subjects with CAD
604843.G.1.3United Arab Emirates160.12Saber-Ayad et al. 2018 Study with 282 Emiratis. Subjects with C...
604843.G.1.4United Arab Emirates520.12Saber-Ayad et al. 2018 Study with 282 Emiratis. Subjects with C...
604843.G.2United Arab EmiratesNANASaber-Ayad et al. 2017 Study with 282 Emirati subjects (females...
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