NM_021939.4:c.1016_1023dup

HGVS Expressions

  • NG_015860.1:g.11919_11926dup
  • NM_021939.4:c.1016_1023dup
  • NP_068758.3:p.Thr342GlyfsTer26
  • NC_000017.11:g.41819628_41819635dup

Associated Genes

FK506-Binding Protein 10
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Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
610968.2.1Saudi Arabia2NAPathogenicOsteogenesis Imperfecta, Type XIMaddirevula et al. 2018 Patient's parents are from the same vill...
610968.2.2Saudi Arabia2NAPathogenicOsteogenesis Imperfecta, Type XIMaddirevula et al. 2018 Relative of 610968.2.1; patient's parent...
610968.3Saudi Arabia2NAPathogenicOsteogenesis Imperfecta, Type XIMaddirevula et al. 2018
610968.4Saudi Arabia2NAPathogenicOsteogenesis Imperfecta, Type XIMaddirevula et al. 2018
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