GC∗3 NM_000583.4:c.[1296T>G;1307C>A]

HGVS Expressions

  • NG_012837.3:g.[57904T>G;57915C>A]
  • NM_000583.4:c.[1296T>G;1307C>A]
  • NP_000574.2:p.[Asp432Glu;Thr436Lys]
  • NC_000004.12:g.[71752617A>C;71752606G>T]

Associated Genes

Group-Specific Component
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Clinvar Clinical Significance

Uncertain Significance

Variant Type

Haplotype

dbSNP

7041 4588

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
139200.G.1.1Lebanon110.124Medlej-Hashim et al. 2015 Study participants with Hypovitaminosis ...
139200.G.1.2Lebanon390.31Medlej-Hashim et al. 2015 Study participants with normal levels of...
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