NM_000071.3:c.969G>A

HGVS Expressions

  • NG_008938.1:g.18550G>A
  • NM_000071.3:c.969G>A
  • NP_000062.1:p.Trp323Ter
  • NC_000021.9:g.43062381C>T

Associated Genes

CBS Gene
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Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

212856

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
236200.11Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-1 from Family 9 in the public...
236200.12Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient IV-7 from Family 10 in the publi...
236200.13Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-1 from Family 11 in the publi...
236200.14Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient IV-9 from Family 12 in the publi...
236200.16Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient IV-12 from Family 14 in the publ...
236200.4.1Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-1 from Family 2 in the public...
236200.4.2Saudi Arabia1Zaidi et al. 2012 Father of 236200.4.1
236200.4.3Saudi Arabia1Zaidi et al. 2012 Mother of 236200.4.1
236200.5.1Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-3 from Family 3 in the public...
236200.5.2Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-2 from Family 3 in the public...
236200.5.3Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-4 from Family 3 in the public...
236200.5.4Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-1 from Family 3 in the public...
236200.5.5Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient I-1 from Family 3 in the publica...
236200.6.1Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient IV-1 from Family 4 in the public...
236200.6.2Saudi Arabia1Zaidi et al. 2012 Brother of 236200.6.1
236200.6.3Saudi Arabia1Zaidi et al. 2012 Brother of 236200.6.1
236200.6.4Saudi Arabia1Zaidi et al. 2012 Father of 236200.6.1
236200.6.5Saudi Arabia1Zaidi et al. 2012 Mother of 236200.6.1
236200.7.1Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient IV-2 from Family 5 in the public...
236200.7.2Saudi Arabia1Zaidi et al. 2012 Sister of 236200.7.1
236200.7.3Saudi Arabia1Zaidi et al. 2012 Brother of 236200.7.1
236200.7.4Saudi Arabia1Zaidi et al. 2012 Father of 236200.7.1
236200.7.5Saudi Arabia1Zaidi et al. 2012 Mother of 236200.7.1
236200.8.1Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-3 from Family 6 in the public...
236200.8.2Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-2 from Family 6 in the public...
236200.8.3Saudi Arabia2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-1 from Family 6 in the public...
236200.8.4Saudi Arabia1Zaidi et al. 2012 Mother of 236200.8.1
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