NM_033028.5:c.157-3C>G

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HGVS Expressions

  • NG_009416.2:g.31057C>G
  • NM_033028.5:c.157-3C>G
  • NC_000015.10:g.72712241C>G

Associated Genes

BBS4 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1567412639

Clinvar

585184

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615982.1.1Iraq2PathogenicBardet-Biedl Syndrome 4Makrythanasis et al. 2014
615982.1.2Iraq2PathogenicBardet-Biedl Syndrome 4Makrythanasis et al. 2014 Brother of 615982.1.1
615982.1.3Iraq2PathogenicBardet-Biedl Syndrome 4Makrythanasis et al. 2014 Brother of 615982.1.1
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Contributors

  • Sayeeda Hana: 24.02.2022

Edit History

  • Sayeeda Hana: 24.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.