NM_024685.4:c.509T>C

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HGVS Expressions

  • NG_016357.1:g.5967T>C
  • NM_024685.4:c.509T>C
  • NP_078961.3:p.Leu170Ser
  • NC_000012.12:g.76347476A>G

Associated Genes

BBS10 Gene
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

780916348

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615987.G.2.2TunisiaUncertain SignificanceBardet-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.
    © CAGS 2024. All rights reserved.