NM_004369.4:c.7162+1G>A

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HGVS Expressions

  • NG_008676.1:g.74151G>A
  • NM_004369.4:c.7162+1G>A
  • NP_004360.2:p.?
  • NC_000002.12:g.237345057C>T

Associated Genes

Collagen, Type Vi, Alpha-3
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

2203290

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
254090.5Saudi Arabia2Likely PathogenicUllrich Congenital Muscular Dystrophy 1Monies et al. 2017
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Contributors

  • Asha Deepthi: 17.12.2024

Edit History

  • Asha Deepthi: 17.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.