NM_004274.5:c.1573_1574del

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HGVS Expressions

  • NM_004274.5:c.1573_1574del
  • NP_004265.3:p.Lys525GlufsTer30
  • NC_000014.9:g.32546226_32546227del

Associated Genes

A-Kinase Anchor Protein 6
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604691.2Saudi Arabia1Likely PathogenicAKAP6-related Intellectual DisabilityMonies et al. 2017
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Contributors

  • Asha Deepthi: 10.01.2025

Edit History

  • Asha Deepthi: 10.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.