NM_001370658.1:c.262A>G

  1. Home
  2. NM_001370658.1:c.262A>G

HGVS Expressions

  • NG_008019.2:g.45569A>G
  • NM_001370658.1:c.262A>G
  • NP_001357587.1:p.Ile88Val
  • NC_000003.12:g.15641920A>G

Associated Genes

Biotinidase
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

976185636

Clinvar

801944

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
Download Table

Contributors

  • Sayeeda Hana: 07.09.2022

Edit History

  • Sayeeda Hana: 07.09.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.