NM_152618.3:c.787dup

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  2. NM_152618.3:c.787dup

HGVS Expressions

  • NG_021203.1:g.14978dup
  • NM_152618.3:c.787dup
  • NP_689831.2:p.Tyr263LeufsTer4
  • NC_000004.12:g.122742679dup

Associated Genes

BBS12 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

1553941312

Clinvar

434491

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615989.G.1Saudi Arabia2Likely PathogenicBardet-Biedl Syndrome 12Aldahmesh et al. 2014 Four affected members in a family; 2 mal...
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Contributors

  • Pratibha Nair: 03.10.2022

Edit History

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