NM_001927.4:c.1076_1084del

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HGVS Expressions

  • NG_008043.1:g.8016_8024del
  • NM_001927.4:c.1076_1084del
  • NP_001918.3:p.Glu359_Ser361del
  • NC_000002.12:g.219421392_219421400del

Associated Genes

Desmin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

58409037

Clinvar

66391

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601419.1Saudi Arabia1Likely PathogenicMyopathy, Myofibrillar, Desmin-RelatedMonies et al. 2019
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Contributors

  • Pratibha Nair: 23.11.2023

Edit History

  • Pratibha Nair: 23.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.