NM_152384.3:c.966dup

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HGVS Expressions

  • NG_011567.1:g.30027dup
  • NM_152384.3:c.966dup
  • NP_689597.1:p.Ala323CysfsTer57
  • NC_000002.12:g.169504522dup

Associated Genes

BBS5 Gene
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

1553529427

Clinvar

434496

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615983.G.2Saudi Arabia8Likely PathogenicBardet-Biedl syndrome 5 Aldahmesh et al. 2014 Four affected members of a family
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Contributors

  • Pratibha Nair: 03.10.2022

Edit History

  • Pratibha Nair: 10.11.2022
  • Pratibha Nair: 03.10.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.