NM_021939.4:c.831dup

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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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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Duplication

dbSNP

137853883

Clinvar

438659

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
259450.1Saudi Arabia2NAPathogenicBruck Syndrome 1Maddirevula et al. 2018
259450.2Saudi Arabia2NAPathogenicBruck Syndrome 1Maddirevula et al. 2018
610968.6United Arab Emirates2Likely PathogenicOsteogenesis Imperfecta, Type XIAlabdullatif et al. 2017
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Contributors

  • Pratibha Nair: 28.06.2022
  • Asha Deepthi: 25.11.2021

Edit History

  • Pratibha Nair: 28.06.2022
  • Asha Deepthi: 25.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.