NM_000070.3:c.946-1_948del

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HGVS Expressions

  • NG_008660.1:g.49536_49539del
  • NM_000070.3:c.946-1_948del

Associated Genes

Calpain 3
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Genomic Location

chr15:.42392638-42392641

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

766156798

Clinvar

497002

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253600.1Lebanon1PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 22.10.2020

Edit History

  • Pratibha Nair: 22.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.