NM_001366244.2:c.1675_1676insACCG

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HGVS Expressions

  • NM_001366244.2:c.1675_1676insACCG
  • NP_001353173.2:p.Arg559HisfsTer21
  • NC_000009.12:g.128260547_128260548insCGGT

Associated Genes

Golgi Autoantigen, Golgin Subfamily A, 2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Insertion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602580.1Saudi Arabia2Likely PathogenicGOLGA2 Associated Neurodevelopmental DisorderMaddirevula et al. 2019
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Contributors

  • Pratibha Nair: 05.10.2022

Edit History

  • Pratibha Nair: 05.10.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.