NM_021939.4:c.831dup

HGVS Expressions

  • NG_015860.1:g.11604dup
  • NM_021939.4:c.831dup
  • NP_068758.3:p.Gly278ArgfsTer95
  • NC_000017.11:g.41819313dup

Associated Genes

FK506-Binding Protein 10
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Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

438659

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
259450.1Saudi Arabia2NAPathogenicBruck Syndrome 1Maddirevula et al. 2018
259450.2Saudi Arabia2NAPathogenicBruck Syndrome 1Maddirevula et al. 2018
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