NM_000071.3:c.700G>A

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HGVS Expressions

  • NG_008938.1:g.15692G>A
  • NM_000071.3:c.700G>A
  • NP_000062.1:p.Asp234Asn
  • NC_000021.9:g.43065239C>T

Associated Genes

CBS Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

773734233

Clinvar

212852

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236200.1Qatar2NALikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyEl-Said et al. 2006 Patient from tribe S in the publication
613381.G.4Qatar30.028PathogenicDevadoss Gandhi et al. 2024 3 individuals from a study of 14,060 Qat...
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Contributors

    Edit History

    • Sayeeda Hana: 25.11.2024
    • 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.