NM_033028.5:c.1180C>T

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HGVS Expressions

  • NG_009416.2:g.54714C>T
  • NM_033028.5:c.1180C>T
  • NP_149017.2:p.Gln394Ter
  • NC_000015.10:g.72735898C>T

Associated Genes

BBS4 Gene
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615982.6Saudi Arabia2PathogenicBardet-Biedl Syndrome 4Abu-Safieh et al. 2012 "BBS-F031-A" in the publication
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Contributors

  • Sayeeda Hana: 14.06.2022

Edit History

  • Sami Bizzari: 01.08.2022
  • Sayeeda Hana: 01.08.2022
  • Sayeeda Hana: 14.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.