Hb Fontainebleau NM_000517.6:c.64G>C

  1. Home
  2. Hb Fontainebleau NM_000517.6:c.64G>C

HGVS Expressions

  • NG_059271.1:g.5130G>C
  • NM_000517.6:c.64G>C
  • NP_000508.1:p.Ala22Pro
  • NC_000016.10:g.172976G>C

Associated Genes

Hemoglobin--Alpha Locus 2
Back to search Result
Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

281864817

Clinvar

801178

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604131.12United Arab Emirates20.0024Uncertain SignificanceTurner et al. 2014 'Case 1' in the publication
604131.13United Arab Emirates10.0024Uncertain SignificanceTurner et al. 2014 'Case 2' in the publication
604131.G.6United Arab Emirates40.0024Uncertain SignificanceTurner et al. 2014 4 patients (2 males and 2 females)
604131.G.7United Arab Emirates60.0024Uncertain SignificanceTurner et al. 2014 6 patients (4 males and 2 females)
Download Table

Contributors

  • Asha Deepthi: 06.07.2022

Edit History

  • Pratibha Nair: 24.01.2023
  • Asha Deepthi: 06.07.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.