NM_024685.4:c.724del

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  2. NM_024685.4:c.724del

HGVS Expressions

  • NG_016357.1:g.6182del
  • NM_024685.4:c.724del
  • NP_078961.3:p.Gln242fs
  • NC_000012.12:g.76347261del

Associated Genes

BBS10 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1565809995

Clinvar

585180

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615987.G.2.1LebanonLikely PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006 Unknown number of patients from family '...
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Contributors

    Edit History

    • Asha Deepthi: 17.03.2021
    • Asha Deepthi: 27.04.2020
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    © CAGS 2024. All rights reserved.