NM_024685.4:c.1889_1893del

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HGVS Expressions

  • NG_016357.1:g.7347_7351del
  • NM_024685.4:c.1889_1893del
  • NP_078961.3:p.Ser630AsnfsTer4
  • NC_000012.12:g.76346092_76346096del

Associated Genes

BBS10 Gene
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615987.5Saudi Arabia2PathogenicBardet-Biedl Syndrome 10Abu-Safieh et al. 2012 "BBS-F023-A" in the publication
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Contributors

  • Sayeeda Hana: 13.06.2022

Edit History

  • Sayeeda Hana: 25.07.2022
  • Sayeeda Hana: 13.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.