NM_152618.3:c.2041_2049del

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  2. NM_152618.3:c.2041_2049del

HGVS Expressions

  • NM_152618.3:c.2041_2049del
  • NP_689831.2:p.Leu682_Leu684del
  • NC_000004.12:g.122743933_122743941del

Associated Genes

BBS12 Gene
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615989.4.1Saudi Arabia2Likely PathogenicBardet-Biedl Syndrome 12Aldahmesh et al. 2014
615989.4.2Saudi Arabia2Likely PathogenicBardet-Biedl Syndrome 12Aldahmesh et al. 2014 Sibling of 615989.4.1
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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.