NM_000071.3:c.1039G>A

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HGVS Expressions

  • NG_008938.1:g.18620G>A
  • NM_000071.3:c.1039G>A
  • NP_000062.1:p.Gly347Ser
  • NC_000021.9:g.43062311C>T

Associated Genes

CBS Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

771298943

Clinvar

188801

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236200.2Bahrain2Likely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyGan-Schreier et al. 2010 Patient from Qatar of Bahraini descent
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Contributors

    Edit History

    • Asha Deepthi: 07.03.2021
    • Asha Deepthi: 03.01.2019
    • Asha Deepthi: 06.12.2018
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.