NM_020184.3:c.599C>A

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
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

2851

Epidemiology in the Arab World

View Map
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 '...
© CAGS 2024. All rights reserved.