NM_001281723.3:c.1429C>T

  1. Home
  2. NM_001281723.3:c.1429C>T

HGVS Expressions

  • NG_008019.1:g.48598C>T
  • NM_001281723.3:c.1429C>T
  • NP_001268652.2:p.Pro477Ser
  • NC_000003.12:g.15645345C>T

Associated Genes

Biotinidase
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

138818907

Clinvar

25094

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253260.2.1Somalia1PathogenicBiotinidase DeficiencySarafoglou et al. 2009
253260.2.2Somalia1PathogenicBiotinidase DeficiencySarafoglou et al. 2009
253260.2.3Somalia2PathogenicBiotinidase DeficiencySarafoglou et al. 2009
253260.2.4Somalia1PathogenicBiotinidase DeficiencySarafoglou et al. 2009
253260.G.7United Arab EmiratesNANALikely PathogenicBiotinidase DeficiencyAl-Shamsi et al. 2014; Al-Jasmi at al. 2016 Compound heterozygous mutation identifie...
253260.G.9EgyptNANALikely PathogenicBiotinidase DeficiencyAl-Jasmi at al. 2016 UAE resident(s) of Egyptian origin. Numb...
Download Table

Contributors

  • Sayeeda Hana: 16.03.2020

Edit History

  • Sami Bizzari: 07.02.2023
  • Pratibha Nair: 21.09.2022
  • Pratibha Nair: 23.08.2022
  • Asha Deepthi: 04.07.2021
  • Sayeeda Hana: 16.03.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.