NM_017946.4:c.197+5_197+8del

  1. Home
  2. NM_017946.4:c.197+5_197+8del

HGVS Expressions

  • NG_032173.1:g.5491GTAA[1]
  • NM_017946.4:c.197+5_197+8del
  • NP_060416.1:p.?
  • NC_000007.14:g.30026304TTAC[1]

Associated Genes

FK506-Binding Protein 14
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

dbSNP

747353360

Clinvar

161456

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614557.1Saudi Arabia2Likely PathogenicEhlers-Danlos Syndrome, Kyphoscoliotic Type, 2Alazami et al, 2016
Download Table

Contributors

  • Asha Deepthi: 20.07.2024

Edit History

  • Asha Deepthi: 20.07.2024
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.