NM_024649.5:c.1684G>A

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  2. NM_024649.5:c.1684G>A

HGVS Expressions

  • NG_009093.1:g.26084G>A
  • NM_024649.5:c.1684G>A
  • NP_078925.3:p.Asp562Asn
  • NC_000011.10:g.66531731G>A

Associated Genes

BBS1 Gene
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CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

768098877

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615982.6Saudi Arabia1BenignAbu-Safieh et al. 2012 "BBS-F031-A" in the publication
615983.3United Arab Emirates1BenignAbu-Safieh et al. 2012 "BBS-F030-A" in the publication
615987.6.3Saudi Arabia1BenignStoetzel et al. 2006; Abu-Safieh et al. 2012 Sibling of 615987.6.1 "BBS-F029-C" in t...
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Contributors

  • Sayeeda Hana: 18.07.2022

Edit History

  • Sayeeda Hana: 01.08.2022
  • Sayeeda Hana: 18.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.