NM_001370658.1:c.1535C>T

HGVS Expressions

  • NG_008019.2:g.49100C>T
  • NM_001370658.1:c.1535C>T
  • NP_001357587.1:p.Thr512Met
  • NC_000003.12:g.15645451C>T

Associated Genes

Biotinidase
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1897

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253260.8United Arab Emirates1Likely PathogenicBiotinidase DeficiencyVarghese et al. 2021
253260.G.3United Arab EmiratesNANALikely PathogenicBiotinidase DeficiencyAl-Jasmi at al. 2016 Compound heterozygous mutation identifie...
253260.G.11SyriaNANALikely PathogenicBiotinidase DeficiencyAl-Jasmi at al. 2016 UAE resident(s) of Syrian origin. Number...
253260.G.12MoroccoNANALikely PathogenicBiotinidase DeficiencyAl-Jasmi at al. 2016 UAE resident(s) of Moroccan origin. Numb...
253260.G.13YemenNANALikely PathogenicBiotinidase DeficiencyAl-Jasmi at al. 2016 UAE resident(s) of Yemeni origin. Number...
© CAGS 2024. All rights reserved.