NM_005198.5:c.927+1G>A

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HGVS Expressions

  • NG_012643.1:g.3695G>A
  • NM_005198.5:c.927+1G>A
  • NP_005189.2:p.?
  • NC_000022.11:g.50579973C>T

Associated Genes

Choline Kinase, Beta
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602541.1Saudi Arabia2Likely PathogenicMuscular Dystrophy, Congenital, Megaconial TypeMonies et al. 2017
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Contributors

  • Asha Deepthi: 23.12.2024

Edit History

  • Asha Deepthi: 23.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.