Hb Tripoli NM_000518.5:c.80A>C

  1. Home
  2. Hb Tripoli NM_000518.5:c.80A>C

HGVS Expressions

  • NG_059281.1:g.5130A>C
  • NM_000518.5:c.80A>C
  • NP_000509.1:p.Glu27Val

Associated Genes

Hemoglobin - Beta Locus
Back to search Result
Genomic Location

chr11:5226942

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

33915112

Clinvar

15614

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.4AlgeriaNALikely Pathogenic, PathogenicLacan et al. 2004 Carrier of Hb Tripoli
Download Table

Contributors

  • Asha Deepthi: 13.12.2020

Edit History

  • Asha Deepthi: 13.12.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.