NM_000071.3:c.19dup

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HGVS Expressions

  • NG_008938.1:g.8756dup
  • NM_000071.3:c.19dup
  • NP_000062.1:p.Gln7ProfsTer30
  • NC_000021.9:g.43072180dup

Associated Genes

CBS Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

748695461

Clinvar

371345

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613381.4Qatar1PathogenicDevadoss Gandhi et al. 2024 1 individual from a study of 14,060 Qata...
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Contributors

  • Sayeeda Hana: 26.11.2024

Edit History

  • Sayeeda Hana: 26.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.