NM_021939.4:c.354del

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HGVS Expressions

  • NG_015860.1:g.9457del
  • NM_021939.4:c.354del
  • NP_068758.3:p.Ile118MetfsTer41
  • NC_000017.11:g.41817166del

Associated Genes

FK506-Binding Protein 10
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

797044559

Clinvar

191076

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
259450.3United Arab Emirates2Likely PathogenicBruck Syndrome 1Alabdullatif et al. 2017
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Contributors

  • Pratibha Nair: 27.06.2022

Edit History

  • Pratibha Nair: 27.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.