NM_001281723.3:c.497G>A

  1. Home
  2. NM_001281723.3:c.497G>A

HGVS Expressions

  • NG_008019.2:g.48062G>A
  • NM_001281723.3:c.497G>A
  • NP_001268652.2:p.Cys166Tyr
  • NC_000003.12:g.15644413G>A

Associated Genes

Biotinidase
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

397514369

Clinvar

25020

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232300.10United Arab Emirates1PathogenicBiotinidase DeficiencySaleh et al. 2021
253260.3United Arab Emirates1Likely PathogenicBiotinidase DeficiencyBen-Rebeh et al. 2012
253260.6United Arab Emirates1PathogenicBiotinidase DeficiencySaleh et al. 2021 Sibling with hyperactivity
253260.G.6United Arab EmiratesNANALikely PathogenicBiotinidase DeficiencyAl-Shamsi et al. 2014; Al-Jasmi at al. 2016 Mutation (homozygous+compound heterozygo...
Download Table

Contributors

  • Sayeeda Hana: 24.05.2021

Edit History

  • Pratibha Nair: 03.10.2021
  • Asha Deepthi: 04.07.2021
  • Sayeeda Hana: 24.05.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.