NM_006446.5:c.388A>G

HGVS Expressions

  • NG_011745.1:g.50611A>G
  • NM_006446.5:c.388A>G
  • NP_006437.3:p.Asn130Asp
  • NC_000012.12:g.21176804A>G
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Clinvar Clinical Significance

Benign

Variant Type

Substitution

dbSNP

2306283

Clinvar

259983

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604843.G.1.1United Arab Emirates1280.46Saber-Ayad et al. 2018 Study with 282 Emiratis.
604843.G.1.2United Arab Emirates1320.46Saber-Ayad et al. 2018 Study with 282 Emiratis.
604843.G.2United Arab EmiratesNANASaber-Ayad et al. 2017 Study with 282 Emirati subjects (females...
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