NM_018249.6:c.4672C>T

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HGVS Expressions

  • NG_008999.1:g.176759C>T
  • NM_018249.6:c.4672C>T
  • NP_060719.4:p.Arg1558Ter
  • NC_000009.12:g.120408401G>A

Associated Genes

CDK5 Regulatory Subunit-Associated Protein 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

373278668

Clinvar

91407

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604804.3Saudi Arabia2PathogenicMicrocephaly 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.