NM_024685.4:c.728_731del

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HGVS Expressions

  • NG_016357.1:g.6186_6189del
  • NM_024685.4:c.728_731del
  • NP_078961.3:p.Lys243IlefsTer15
  • NC_000012.12:g.76347257_76347260del

Associated Genes

BBS10 Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

786204671

Clinvar

189071

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615987.2.01Oman2PathogenicBardet-Biedl Syndrome 10White et al. 2007 Proband
615987.2.02Oman2PathogenicBardet-Biedl Syndrome 10White et al. 2007 Relative of 615987.2.01
615987.2.03Oman2PathogenicBardet-Biedl Syndrome 10White et al. 2007 Relative of 615987.2.01
615987.2.04Oman2PathogenicBardet-Biedl Syndrome 10White et al. 2007 Relative of 615987.2.01, Brother of 6159...
615987.2.05Oman1PathogenicWhite et al. 2007 Unaffected father of 615987.2.01
615987.2.06Oman1PathogenicWhite et al. 2007 Unaffected mother of 615987.2.01
615987.2.07Oman1PathogenicWhite et al. 2007 Unaffected father of 615987.2.02
615987.2.08Oman1PathogenicWhite et al. 2007 Unaffected mother of 615987.2.02
615987.2.09Oman1PathogenicWhite et al. 2007 Unaffected father of 615987.2.03 and 615...
615987.2.10Oman1PathogenicWhite et al. 2007 Unaffected mother of 615987.2.03 and 615...
615987.6.1Saudi Arabia2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Abu-Safieh et al. 2012 "BBS-F029-A" in the publication
615987.6.2Saudi Arabia2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Abu-Safieh et al. 2012 Sibling of 615987.6.1 "BBS-F029-B" in t...
615987.6.3Saudi Arabia2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Abu-Safieh et al. 2012 Sibling of 615987.6.1 "BBS-F029-C" in t...
615987.8Saudi Arabia1PathogenicBardet-Biedl Syndrome 10Patel et al. 2016
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Contributors

  • Sayeeda Hana: 12.04.2020

Edit History

  • Sayeeda Hana: 20.08.2024
  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 01.08.2022
  • Sayeeda Hana: 27.09.2020
  • Sayeeda Hana: 14.04.2020
  • Sayeeda Hana: 12.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.