NM_002430.3:c.1579C>T

  1. Home
  2. NM_002430.3:c.1579C>T

HGVS Expressions

  • NG_023258.1:g.7534C>T
  • NM_002430.3:c.1579C>T
  • NP_002421.3:p.Gln527Ter
  • NC_000022.11:g.27798965G>A

Associated Genes

MN1 Protooncogene, Transcriptional Regulator
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618774.1United Arab Emirates1Likely PathogenicCEBALID SyndromeSaleh et al. 2021 de novo mutation
Download Table

Contributors

  • Pratibha Nair: 14.09.2021

Edit History

  • Rahila Mir: 09.02.2022
  • Pratibha Nair: 14.09.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.