NM_152384.3:c.158C>T

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  2. NM_152384.3:c.158C>T

HGVS Expressions

  • NG_011567.1:g.12589C>T
  • NM_152384.3:c.158C>T
  • NP_689597.1:p.Thr53Ile
  • NC_000002.12:g.169487084C>T

Associated Genes

BBS5 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
615983.3United Arab Emirates2Likely PathogenicBardet-Biedl syndrome 5 Abu-Safieh et al. 2012 "BBS-F030-A" in the publication
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Contributors

  • Sayeeda Hana: 14.06.2022

Edit History

  • Pratibha Nair: 03.01.2023
  • Sayeeda Hana: 01.08.2022
  • Sayeeda Hana: 14.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.