NM_004006.2:c.4071+1G>A

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  2. NM_004006.2:c.4071+1G>A

HGVS Expressions

  • NG_012232.1:g.906370G>A

Associated Genes

Dystrophin
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Genomic Location

chrX:32438240

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1060502643

Clinvar

409917

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
310200.1Lebanon1PathogenicMuscular Dystrophy, Duchenne TypeNair et al. 2018
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Contributors

  • Pratibha Nair: 29.04.2020

Edit History

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