NM_003289.4:c.121G>A

  1. Home
  2. NM_003289.4:c.121G>A

HGVS Expressions

  • NG_011620.1:g.5793G>A
  • NM_003289.4:c.121G>A
  • NP_003280.2:p.Glu41Lys
  • NC_000009.12:g.35689265C>T

Associated Genes

Tropomyosin 2
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

137853306

Clinvar

12464

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609285.1Saudi Arabia1Likely PathogenicCongenital Myopathy 23Monies et al. 2017
Download Table

Contributors

  • Asha Deepthi: 14.01.2025

Edit History

  • Asha Deepthi: 14.01.2025
Back to search Result
© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.