NM_004562.2:c.601_602insA

  1. Home
  2. NM_004562.2:c.601_602insA

HGVS Expressions

  • NG_008289.1:g.678695_678696insA
  • NM_004562.2:c.601_602insA
  • NP_004553.2:p.Cys201Ter
  • NC_000006.12:g.162054107_162054108insT

Associated Genes

Parkin
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Insertion

dbSNP

1231455463

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600116.1United Arab Emirates2Likely PathogenicParkinson Disease 2, Autosomal Recessive JuvenileAlafifi et al. 2020 Early onset parkisonism
Download Table

Contributors

  • Pratibha Nair: 31.03.2021

Edit History

  • Asha Deepthi: 07.12.2022
  • Sayeeda Hana: 22.09.2021
  • Pratibha Nair: 31.03.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.