NM_021939.4:c.1016_1023dup

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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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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

137853884

Clinvar

30631

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(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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Contributors

  • Asha Deepthi: 25.11.2021

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 14.02.2022
  • Asha Deepthi: 25.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.