NM_005630.3:c.289C>T

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HGVS Expressions

  • NG_031964.3:g.83414C>T
  • NM_005630.3:c.289C>T
  • NP_005621.2:p.Arg97Cys
  • NC_000003.12:g.133973771G>A

Associated Genes

Solute Carrier Organic Anion Transporter Family, Member 2A1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

761212094

Clinvar

2502879

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614441.1United Arab Emirates2Likely PathogenicHypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 Albawa'neh et al. 2022 Successfully treated with etoricoxib
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Contributors

  • Pratibha Nair: 09.01.2024

Edit History

  • Pratibha Nair: 09.01.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.