NM_001178007.1:c.265_266del

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HGVS Expressions

  • NG_021203.1:g.14456_14457del
  • NM_001178007.1:c.265_266del
  • NP_001171478.1:p.Leu89fs

Associated Genes

BBS12 Gene
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Genomic Location

chr4:122742157-122742158

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1397714772

Clinvar

554330

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615989.1Lebanon1PathogenicBardet-Biedl Syndrome 12Jaffal et al, 2019b
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Contributors

  • Sayeeda Hana: 15.10.2020

Edit History

  • Sayeeda Hana: 15.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.