NM_152618.3:c.959T>A

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HGVS Expressions

  • NG_021203.1:g.15150T>A
  • NM_152618.3:c.959T>A
  • NP_689831.2:p.Leu320Gln
  • NC_000004.12:g.122742851T>A

Associated Genes

BBS12 Gene
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615989.2.1United Arab Emirates2Likely PathogenicBardet-Biedl Syndrome 12Abu-Safieh et al. 2012 "BBS-F027-A" in the publication
615989.2.2United Arab Emirates2Likely PathogenicBardet-Biedl Syndrome 12Abu-Safieh et al. 2012 Sibling of 615989.2.1 "BBS-F027-B" in t...
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Contributors

  • Sayeeda Hana: 14.06.2022

Edit History

  • Pratibha Nair: 03.01.2023
  • Sayeeda Hana: 25.07.2022
  • Sayeeda Hana: 14.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.