NM_000071.3:c.770C>T

HGVS Expressions

  • NG_008938.1:g.16973C>T
  • NM_000071.3:c.770C>T
  • NP_000062.1:p.Thr257Met
  • NC_000021.9:g.43063958G>A

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

188927

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236200.3.1Sudan2NALikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient IV-2 from Family 1 in the public...
236200.3.2Sudan2NALikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyZaidi et al. 2012 Patient IV-3 from Family 1 in the public...
236200.3.3Sudan1NAZaidi et al. 2012 Mother of 236200.3.1
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