NM_001080424.1:c.4271_4273del

HGVS Expressions

  • NG_053032.1:g.22857_22859del
  • NM_001080424.1:c.4271_4273del
  • NP_001073893.1:p.Phe1424del
  • NC_000017.11:g.7852056_7852058del

Associated Genes

Lysine Demethylase 6B
Back to search Result
Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
618505.2United Arab EmiratesLikely PathogenicNeurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal AbnormalitiesSaleh et al. 2021 de novo mutation
© CAGS 2021. All rights reserved.