NM_021939.4:c.337G>A

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HGVS Expressions

  • NG_015860.1:g.9440G>A
  • NM_021939.4:c.337G>A
  • NP_068758.3:p.Glu113Lys
  • NC_000017.11:g.41817149G>A

Associated Genes

FK506-Binding Protein 10
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397514674

Clinvar

41473

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610968.5Saudi Arabia2NAPathogenicOsteogenesis Imperfecta, Type XIMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 25.11.2021

Edit History

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