NM_004006.2:c.1283delA

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  2. NM_004006.2:c.1283delA

HGVS Expressions

  • NG_012232.1:g.700430delA
  • NM_004006.2:c.1283delA
  • NP_003997.1:p.Asn428Ilefs

Associated Genes

Dystrophin
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Genomic Location

chrX:32644180

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

917479

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
310200.2Lebanon1PathogenicMuscular Dystrophy, Duchenne TypeNair et al. 2018
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Contributors

  • Pratibha Nair: 29.04.2020

Edit History

  • Sami Bizzari: 10.06.2021
  • Pratibha Nair: 29.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.