NM_024649.5:c.436C>T

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HGVS Expressions

  • NG_009093.1:g.9896C>T
  • NM_024649.5:c.436C>T
  • NP_078925.3:p.Arg146Ter
  • NC_000011.10:g.66515543C>T

Associated Genes

BBS1 Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786204444

Clinvar

188752

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
209900.G.1Tunisia4NALikely PathogenicBardet-Biedl Syndrome 1Smaoui et al. 2006 2 patients from family '57007' in the pu...
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Contributors

    Edit History

    • Asha Deepthi: 17.03.2021
    • Asha Deepthi: 22.04.2020
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.