NM_006314.3:c.926+1G>A

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HGVS Expressions

  • NG_047117.1:g.11653G>A
  • NM_006314.3:c.926+1G>A
  • NC_000001.11:g.26184142G>A

Associated Genes

Connector Enhancer of Kinase Suppressor of Ras 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

868021183

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603272.1Saudi Arabia2Likely PathogenicCNKSR1 Associated Intellectual DisabilityPatel et al. 2018
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Contributors

  • Pratibha Nair: 25.09.2023

Edit History

  • Pratibha Nair: 25.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.