HGVS Expressions

  • NG_053032.1:g.17970del
  • NM_001080424.1:c.974del
  • NP_001073893.1:p.Pro325LeufsTer162
  • NC_000017.11:g.7847169del

Associated Genes

Lysine Demethylase 6B
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Clinical Significance

Likely Pathogenic

Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
618505.1United Arab Emirates1Likely PathogenicNeurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal AbnormalitiesSaleh et al. 2021 de novo mutation
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