NM_152384.3:c.123del

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HGVS Expressions

  • NG_011567.1:g.7819del
  • NM_152384.3:c.123del
  • NP_689597.1:p.Gly42fs
  • NC_000002.12:g.169482314del

Associated Genes

BBS5 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1272140892

Clinvar

585187

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615983.G.1Tunisia4NALikely PathogenicBardet-Biedl syndrome 5 Smaoui et al. 2006 2 patients from family '57011' in the pu...
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Contributors

    Edit History

    • Asha Deepthi: 17.03.2021
    • Asha Deepthi: 23.04.2020
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.