NM_000337.6:c.339del

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HGVS Expressions

  • NG_008693.2:g.723932del
  • NM_000337.6:c.339del
  • NP_000328.2:p.Asn113LysfsTer10
  • NC_000005.10:g.156589275del

Associated Genes

Sarcoglycan, Delta
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

3362594

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601287.1Saudi Arabia2Likely PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 6Monies et al. 2017
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Contributors

  • Asha Deepthi: 14.01.2025

Edit History

  • Asha Deepthi: 14.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.