NM_080680.3:c.1808dup

  1. Home
  2. NM_080680.3:c.1808dup

HGVS Expressions

  • NG_011589.1:g.19151dup
  • NM_080680.3:c.1808dup
  • NP_542411.2:p.Gly604TrpfsTer132
  • NC_000006.12:g.33178319dup

Associated Genes

Collagen, Type XI, Alpha-2
Back to search Result
Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
215150.1Saudi Arabia2NALikely PathogenicOtospondylomegaepiphyseal Dysplasia, Autosomal RecessiveMaddirevula et al. 2018
Download Table

Contributors

  • Asha Deepthi: 02.11.2021

Edit History

  • Asha Deepthi: 02.11.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.