NM_021939.4:c.1034dup

HGVS Expressions

  • NG_015860.1:g.11937dup
  • NM_021939.4:c.1034dup
  • NP_068758.3:p.His346AlafsTer27
  • NC_000017.11:g.41819646dup

Associated Genes

FK506-Binding Protein 10
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610968.1Saudi Arabia2NAPathogenicOsteogenesis Imperfecta, Type XIMaddirevula et al. 2018
© CAGS 2024. All rights reserved.