NM_001281723.3:c.410G>A

  1. Home
  2. NM_001281723.3:c.410G>A

HGVS Expressions

  • NG_008019.2:g.47975G>A
  • NM_001281723.3:c.410G>A
  • NP_001310511.1:p.Arg137His
  • NC_000003.12:g.15644326G>A

Associated Genes

Biotinidase
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

146015592

Clinvar

38290

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253260.G.11SyriaNANALikely PathogenicBiotinidase DeficiencyAl-Jasmi at al. 2016 UAE resident(s) of Syrian origin. Number...
Download Table

Contributors

  • Asha Deepthi: 04.07.2021

Edit History

  • Asha Deepthi: 04.07.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.