NM_018196.4:c.961_962del

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HGVS Expressions

  • NG_021318.1:g.111030_111031del
  • NM_018196.4:c.961_962del
  • NP_060666.1:p.Ile321LeufsTer5
  • NC_000023.11:g.155506933_155506934del

Associated Genes

Epsilon-Trimethyllysine Hydroxylase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

782624357

Clinvar

225231

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300777.G.1Qatar70.019PathogenicDevadoss Gandhi et al. 2024 7 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 23.01.2025

Edit History

  • Sayeeda Hana: 23.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.