NM_152618.3:c.1993GTT[1]

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  2. NM_152618.3:c.1993GTT[1]

HGVS Expressions

  • NG_021203.1:g.16184GTT[1]
  • NM_152618.3:c.1993GTT[1]
  • NP_689831.2:p.Val666del
  • NC_000004.12:g.122743885GTT[1]

Associated Genes

BBS12 Gene
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

dbSNP

779685329

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615989.3United Arab Emirates2Likely PathogenicBardet-Biedl Syndrome 12Abu-Safieh et al. 2012 "BBS-F028-A" in the publication
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Contributors

  • Sayeeda Hana: 14.06.2022

Edit History

  • Sami Bizzari: 06.02.2023
  • Pratibha Nair: 02.01.2023
  • Sayeeda Hana: 25.07.2022
  • Sayeeda Hana: 19.07.2022
  • Sayeeda Hana: 14.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.