NM_001298.3:c.1457G>A

  1. Home
  2. NM_001298.3:c.1457G>A

HGVS Expressions

  • NG_009097.1:g.55473G>A
  • NM_001298.3:c.1457G>A
  • NP_001289.1:p.Cys486Tyr
  • NC_000002.12:g.98396627G>A

Associated Genes

Cyclic Nucleotide-Gated Channel, Alpha-3
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Drug Response, Likely Pathogenic

Variant Type

Substitution

dbSNP

786205531

Clinvar

191121

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216900.7United Arab Emirates2Likely PathogenicAchromatopsia 2Khan. 2020
608902.G.1.2United Arab EmiratesDrug ResponseDrug Metabolism, Poor, CYP2D6-RelatedQumsieh et al. 2011 Subset of 608902.G.1.1. Number of subjec...
Download Table

Contributors

  • Asha Deepthi: 17.05.2021

Edit History

  • Pratibha Nair: 08.09.2021
  • Asha Deepthi: 17.05.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.