NM_000518.5:c.93-3T>G

  1. Home
  2. NM_000518.5:c.93-3T>G

HGVS Expressions

  • NG_059281.1:g.5270T>G
  • NM_000518.5:c.93-3T>G

Associated Genes

Hemoglobin - Beta Locus
Back to search Result
Genomic Location

chr11:5226802

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

34527846

Clinvar

36341

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.7Saudi ArabiaPathogenicBeta-ThalassemiaWong et al. 1989 β+thalassaemia major patient
Download Table

Contributors

  • Asha Deepthi: 15.12.2020

Edit History

  • Asha Deepthi: 15.12.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.