NM_024685.4:c.1091del

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  2. NM_024685.4:c.1091del

HGVS Expressions

  • NG_016357.1:g.6549del
  • NM_024685.4:c.1091del
  • NP_078961.3:p.Asn364ThrfsTer5
  • NC_000012.12:g.76346895del

Associated Genes

BBS10 Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

727503818

Clinvar

166723

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615987.3.1OmanPathogenicBardet-Biedl Syndrome 10White et al. 2007 Proband of an affected family
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Contributors

  • Sayeeda Hana: 12.04.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 27.09.2020
  • Sayeeda Hana: 14.04.2020
  • Sayeeda Hana: 12.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.