NM_000071.3:c.1006C>T

HGVS Expressions

  • NG_008938.1:g.18587C>T
  • NM_000071.3:c.1006C>T
  • NP_000062.1:p.Arg336Cys
  • NC_000021.9:g.43062344G>A

Associated Genes

CBS Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

92423

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236200.9.1Saudi Arabia2NALikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-1 from Family 7 in the public...
236200.9.2Saudi Arabia2NALikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-2 from Family 7 in the public...
236200.9.3Saudi Arabia1NAZaidi et al. 2012 Father of 236200.9.1
236200.9.4Saudi Arabia1NAZaidi et al. 2012 Mother of 236200.9.1
236200.10.1Saudi Arabia2NALikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-1 from Family 8 in the public...
236200.10.2Saudi Arabia2NALikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient II-2 from Family 8 in the public...
236200.G.1Qatar60+NALikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyEl-Said et al. 2006 Group of patients from 30 families that ...
236200.G.2.1Qatar12NALikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZschocke et al. 2009 Group of 6 infants with elevated homocys...
236200.G.2.2Qatar225NAZschocke et al. 2009 Group of 225 infants (heterozygous carri...
236200.G.2.3Qatar14NAZschocke et al. 2009 Group of 14 infants (heterozygous carrie...
236200.G.3Qatar14NALikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyGan-Schreier et al. 2010 Group of 7 infants with elevated homocys...
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