NM_001211.6:c.2441G>A

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HGVS Expressions

  • NG_016338.1:g.56546G>A
  • NM_001211.6:c.2441G>A
  • NP_001202.5:p.Arg814His
  • NC_000015.10:g.40212554G>A

Associated Genes

BUB1 Mitotic checkpoint Serine/Threonine Kinase B
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

28989182

Clinvar

6764

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610329.1.2United Arab Emirates1Likely BenignAl-Shamsi et al. 2016 Sibling of 610329.1.1
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Contributors

  • Pratibha Nair: 06.07.2020

Edit History

  • Sami Bizzari: 13.01.2023
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 06.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.