NM_020184.3:c.599C>A

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HGVS Expressions

  • NG_016608.1:g.5697C>A
  • NM_020184.3:c.599C>A
  • NP_064569.3:p.Ser200Tyr
  • NC_000002.12:g.96761598C>A

Associated Genes

Cyclin M4
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

79424354

Clinvar

2851

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
217080.2PalestineNALikely PathogenicJalili SyndromeJalili, 2010 Singleton C' in the publication
217080.G.1Palestine2NAPathogenicJalili SyndromeParry et al. 2009 Unknown number of patients from family '...
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Contributors

    Edit History

    • Asha Deepthi: 14.03.2021
    • Asha Deepthi: 05.02.2019
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.