NM_018249.6:c.1316T>A

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HGVS Expressions

  • NG_008999.1:g.93687T>A
  • NM_018249.6:c.1316T>A
  • NP_060719.4:p.Leu439His
  • NC_000009.12:g.120491473A>T

Associated Genes

CDK5 Regulatory Subunit-Associated Protein 2
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604804.4Saudi Arabia2Uncertain SignificanceMicrocephaly 3, Primary, Autosomal RecessiveMonies et al. 2017
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Contributors

  • Asha Deepthi: 18.11.2024

Edit History

  • Asha Deepthi: 18.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.