NM_004273.5:c.617_618inv

  1. Home
  2. NM_004273.5:c.617_618inv

HGVS Expressions

  • NG_012635.1:g.48287_48288inv
  • NM_004273.5:c.617_618inv
  • NP_004264.2:p.Phe206Ter
  • NC_000010.11:g.72007648_72007649inv

Associated Genes

Carbohydrate Sulfotransferase 3
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Inversion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143095.3.01Lebanon1PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
Download Table

Contributors

  • Sayeeda Hana: 24.09.2019

Edit History

  • Sami Bizzari: 30.11.2023
  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 09.06.2021
  • Sayeeda Hana: 25.09.2019
  • Sayeeda Hana: 24.09.2019
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.