NM_004369.4:c.7094del

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  2. NM_004369.4:c.7094del

HGVS Expressions

  • NM_004369.4:c.7094del
  • NP_004360.2:p.Gly2365ValfsTer39
  • NC_000002.12:g.237345214del

Associated Genes

Collagen, Type Vi, Alpha-3
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
254090.2Saudi Arabia2Likely PathogenicUllrich Congenital Muscular Dystrophy 1Monies et al. 2019
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Contributors

  • Pratibha Nair: 22.11.2023

Edit History

  • Pratibha Nair: 22.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.