NM_024649.4:c.320_332dup

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  2. NM_024649.4:c.320_332dup

HGVS Expressions

  • NG_009093.1:g.8919_8931dup
  • NM_024649.4:c.320_332dup
  • NP_078925.3:p.Val112PhefsTer9
  • NC_000011.10:g.66514566_66514578dup

Associated Genes

BBS1 Gene
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
209900.G.2Lebanon4Likely PathogenicBardet-Biedl Syndrome 1Muller et al. 2010 2 members of a family with BBS
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Contributors

  • Pratibha Nair: 07.07.2021

Edit History

  • Rahila Mir: 09.02.2022
  • Pratibha Nair: 07.09.2021
  • Pratibha Nair: 07.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.