NM_003060.3:c.248G>T

  1. Home
  2. NM_003060.3:c.248G>T

HGVS Expressions

  • NG_008982.1:g.5512G>T
  • NM_003060.3:c.248G>T
  • NP_003051.1:p.Arg83Leu
  • NC_000005.10:g.132370220G>T

Associated Genes

Solute Carrier Family 22 (Organic Cation Transporter), Member 5
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

72552726

Clinvar

25361

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
212140.5United Arab Emirates2NALikely PathogenicCarnitine Deficiency, Systemic PrimaryAl-Shamsi et al. 2014
212140.8United Arab Emirates2NALikely PathogenicCarnitine Deficiency, Systemic PrimaryAl-Jasmi at al. 2016
Download Table

Contributors

    Edit History

    • Pratibha Nair: 12.01.2023
    • Asha Deepthi: 24.06.2021
    • Asha Deepthi: 15.03.2021
    • Asha Deepthi: 12.02.2019
    Back to search Result
    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.