NM_004006.3:c.6292C>T

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HGVS Expressions

  • NG_012232.1:g.1127548C>T
  • NM_004006.3:c.6292C>T
  • NP_003997.2:p.Arg2098Ter
  • NC_000023.11:g.32217062G>A

Associated Genes

Dystrophin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

128626250

Clinvar

11260

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
310200.3Saudi Arabia1PathogenicMuscular 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.