NM_182916.3:c.644A>G

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HGVS Expressions

  • NG_041800.2:g.24550A>G
  • NM_182916.3:c.644A>G
  • NP_886552.3:p.His215Arg
  • NC_000003.12:g.3146465A>G

Associated Genes

tRNA Nucleotidyltransferase, CAA-Adding, 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1280842844

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616084.1Saudi Arabia2Likely PathogenicSideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental DelayMonies et al. 2017
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Contributors

  • Asha Deepthi: 13.01.2025

Edit History

  • Asha Deepthi: 13.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.