NM_016941.4:c.329del

  1. Home
  2. NM_016941.4:c.329del

HGVS Expressions

  • NG_008256.1:g.5535del
  • NM_016941.4:c.329del
  • NP_058637.1:p.Val110GlyfsTer22
  • NC_000019.10:g.39499451del

Associated Genes

Delta-Like 3
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277300.3Saudi Arabia2NAPathogenicSpondylocostal Dysostosis, Autosomal Recessive, 1Maddirevula et al. 2018
Download Table

Contributors

  • Asha Deepthi: 11.11.2021

Edit History

  • Rahila Mir: 14.02.2022
  • Asha Deepthi: 11.11.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.