NM_021939.4:c.354del

HGVS Expressions

  • NG_015860.1:g.9457del
  • NM_021939.4:c.354del
  • NP_068758.3:p.Ile118MetfsTer41
  • NC_000017.11:g.41817166del

Associated Genes

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

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

191076

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
259450.3United Arab Emirates2Likely PathogenicBruck Syndrome 1Alabdullatif et al. 2017
© CAGS 2023. All rights reserved.