NM_004718.4:c.130A>T

  1. Home
  2. NM_004718.4:c.130A>T

HGVS Expressions

  • NM_004718.4:c.130A>T
  • NP_004709.2:p.Lys44Ter
  • NC_000002.12:g.42353286T>A

Associated Genes

COX7A2-Like Protein
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

375692790

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605771.1Saudi Arabia2Likely PathogenicMonies et al. 2017
Download Table

Contributors

  • Asha Deepthi: 09.11.2024

Edit History

  • Asha Deepthi: 09.11.2024
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.