NM_031885.5:c.1207C>T

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HGVS Expressions

  • NG_009312.2:g.23654C>T
  • NM_031885.5:c.1207C>T
  • NP_114091.4:p.Arg403Cys
  • NC_000016.10:g.56501371G>A

Associated Genes

BBS2 Gene
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Benign, Pathogenic

Variant Type

Substitution

dbSNP

766873519

Clinvar

319857

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615981.5Saudi Arabia2PathogenicBardet-Biedl Syndrome 2Abu-Safieh et al. 2012 "BBS-F024-A" in the publication
615987.6.2Saudi Arabia1BenignStoetzel et al. 2006; Abu-Safieh et al. 2012 Sibling of 615987.6.1 "BBS-F029-B" in t...
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Contributors

  • Sayeeda Hana: 14.06.2022

Edit History

  • Sayeeda Hana: 01.08.2022
  • Sayeeda Hana: 25.07.2022
  • Sayeeda Hana: 14.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.