NM_004006.3:c.5005G>A

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HGVS Expressions

  • NG_012232.1:g.979570G>A
  • NM_004006.3:c.5005G>A
  • NP_003997.2:p.Glu1669Lys
  • NC_000023.11:g.32365040C>T

Associated Genes

Dystrophin
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
310200.5Saudi Arabia1Uncertain SignificanceMuscular Dystrophy, Duchenne TypeMonies et al. 2017
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Contributors

  • Asha Deepthi: 05.11.2024

Edit History

  • Asha Deepthi: 05.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.