NM_003235.5:c.6360del

HGVS Expressions

  • NG_015832.1:g.150039del
  • NM_003235.5:c.6360del
  • NP_003226.4:p.Ser2121AlafsTer32
  • NC_000008.11:g.133011998del

Associated Genes

Thyroglobulin
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
274700.2.1Oman2PathogenicThyroid Dyshormonogenesis 3Nicholas et al. 2016
274700.2.2Oman2PathogenicThyroid Dyshormonogenesis 3Nicholas et al. 2016 Brother of 274700.2.1
274700.2.3Oman2PathogenicThyroid Dyshormonogenesis 3Nicholas et al. 2016 Brother of 274700.2.1
© CAGS 2024. All rights reserved.