NC_000023.11:g.76992100_77014098dup

HGVS Expressions

  • NC_000023.11:g.76992100_77014098dup

Associated Genes

Magnesium Transporter 1
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300853.1United Arab Emirates1Likely PathogenicImmunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and NeoplasiaAlabdullatif et al. 2017 Father has recurrent skin infections
© CAGS 2024. All rights reserved.