NM_001130053.5:c.69del

  1. Home
  2. NM_001130053.5:c.69del

HGVS Expressions

  • NM_001130053.5:c.69del
  • NP_001123525.3:p.Glu24SerfsTer26
  • NC_000008.11:g.143590014del

Associated Genes

Eukaryotic Translation Elongation Factor 1, Delta
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
130592.G.1SyriaLikely PathogenicReuter et al. 2017 Authors classified this gene variant as ...
Download Table

Contributors

  • Sayeeda Hana: 03.10.2024

Edit History

  • Sayeeda Hana: 29.10.2024
  • Sayeeda Hana: 03.10.2024
Back to search Result
© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.