NM_001199397.3:c.1690_1691del

  1. Home
  2. NM_001199397.3:c.1690_1691del

HGVS Expressions

  • NG_027982.1:g.108800_108801del
  • NM_001199397.3:c.1690_1691del
  • NP_001186326.1:p.Met564ValfsTer35
  • NC_000004.12:g.169508828_169508829del

Associated Genes

NIMA-Related Kinase 1
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

786205645

Clinvar

191325

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
263520.1.1Saudi Arabia2NAPathogenicShort-Rib Thoracic Dysplasia 6 with or without PolydactylyMaddirevula et al. 2018
263520.1.2Saudi Arabia2NAPathogenicShort-Rib Thoracic Dysplasia 6 with or without PolydactylyMaddirevula et al. 2018 Relative of 263520.1.1
263520.2Saudi Arabia2NAPathogenicShort-Rib Thoracic Dysplasia 6 with or without PolydactylyMaddirevula et al. 2018
Download Table

Contributors

  • Asha Deepthi: 03.02.2022

Edit History

  • Asha Deepthi: 04.02.2022
  • Asha Deepthi: 03.02.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.