NM_003235.5:c.475C>T

  1. Home
  2. NM_003235.5:c.475C>T

HGVS Expressions

  • NG_015832.1:g.9589C>T
  • NM_003235.5:c.475C>T
  • NP_003226.4:p.Arg159Ter
  • NC_000008.11:g.132871548C>T

Associated Genes

Thyroglobulin
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

759267330

Clinvar

1028100

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
274700.1.1Saudi Arabia2PathogenicThyroid Dyshormonogenesis 3Nicholas et al. 2016
274700.1.2Saudi Arabia2PathogenicThyroid Dyshormonogenesis 3Nicholas et al. 2016 Brother of 274700.1.1
274700.1.3Saudi Arabia1Nicholas et al. 2016 Father of 274700.1.1
274700.1.4Saudi Arabia1Nicholas et al. 2016 Mother of 274700.1.1
Download Table

Contributors

  • Sayeeda Hana: 12.09.2021

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 09.02.2022
  • Sayeeda Hana: 13.09.2021
  • Sayeeda Hana: 12.09.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.