NM_000071.3:c.457G>A

HGVS Expressions

  • NG_008938.1:g.15241G>A
  • NM_000071.3:c.457G>A
  • NP_000062.1:p.Gly153Arg
  • NC_000021.9:g.43065690C>T

Associated Genes

CBS Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

212846

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236200.15.1Saudi Arabia2NALikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-1 from Family 13 in the publi...
236200.15.2Saudi Arabia2NALikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-3 from Family 13 in the publi...
236200.15.3Saudi Arabia1NAZaidi et al. 2012 Father of 236200.15.1
236200.15.4Saudi Arabia1NAZaidi et al. 2012 Mother of 236200.15.1
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