NM_003718.5:c.2134G>A

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HGVS Expressions

  • NG_052965.1:g.54093G>A
  • NM_003718.5:c.2134G>A
  • NP_003709.3:p.Gly712Arg
  • NC_000007.14:g.39999452G>A

Associated Genes

Cyclin-Dependent Kinase 13
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617360.2United Arab Emirates1Likely PathogenicCongenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental DisorderTrinh et al. 2019
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Contributors

  • Sayeeda Hana: 03.10.2022

Edit History

  • Sayeeda Hana: 03.10.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.