NM_052854.4:c.928_930AAG[2]

  1. Home
  2. NM_052854.4:c.928_930AAG[2]

HGVS Expressions

  • NG_033264.1:g.39999_40001AAG[2]
  • NM_052854.4:c.928_930AAG[2]
  • NP_443086.1:p.Lys312del
  • NC_000011.10:g.46312636_46312638AAG[2]

Associated Genes

Camp Response Element-Binding Protein 3-Like 1
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1555222973

Clinvar

559483

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616229.1.1Lebanon2PathogenicOsteogenesis Imperfecta, Type XVIKeller et al. 2018
616229.1.2Lebanon2PathogenicOsteogenesis Imperfecta, Type XVIKeller et al. 2018 Sibling of 616229.1.1
616229.1.3Lebanon2PathogenicOsteogenesis Imperfecta, Type XVIKeller et al. 2018 Sibling of 616229.1.1
616229.1.4Lebanon1PathogenicOsteogenesis Imperfecta, Type XVIKeller et al. 2018 Sibling of 616229.1.1
616229.1.5Lebanon1PathogenicOsteogenesis Imperfecta, Type XVIKeller et al. 2018 Sibling of 616229.1.1
616229.1.6Lebanon1PathogenicOsteogenesis Imperfecta, Type XVIKeller et al. 2018 Mother of 616229.1.1
Download Table

Contributors

  • Pratibha Nair: 11.01.2021

Edit History

  • Pratibha Nair: 11.01.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.