NM_018451.5:c.133C>T

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HGVS Expressions

  • NG_009165.2:g.15055C>T
  • NM_018451.5:c.133C>T
  • NP_060921.3:p.Arg45Ter
  • NC_000013.11:g.24912893G>A

Associated Genes

Centromeric Protein J
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205481

Clinvar

191040

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608393.2Saudi Arabia2PathogenicMicrocephaly 6, Primary, Autosomal RecessiveShaheen et al. 2019
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Contributors

  • Sayeeda Hana: 21.11.2021

Edit History

  • Sayeeda Hana: 22.11.2021
  • Sayeeda Hana: 21.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.