NM_000383.4:c.278T>A

HGVS Expressions

  • NG_009556.1:g.5823T>A
  • NM_000383.4:c.278T>A
  • NP_000374.1:p.Leu93Gln

Associated Genes

Autoimmune Regulator
Back to search Result
Genomic Location

chr21:44286702

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
240300.8Lebanon2Likely PathogenicAutoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal DysplasiaJalkh et al. 2019
© CAGS 2024. All rights reserved.