NM_000518.5:c.2T>C

  1. Home
  2. NM_000518.5:c.2T>C

HGVS Expressions

  • NG_059281.1:g.5052T>C
  • NM_000518.5:c.2T>C
  • NP_000509.1:p.Met1Thr

Associated Genes

Hemoglobin - Beta Locus
Back to search Result
Genomic Location

chr11:5227020

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

33941849

Clinvar

36310

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.6ComorosPathogenicBeta-ThalassemiaBadens et al. 2000 Mutations identified in β-thalassaemic h...
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.