NM_001849.4:c.2422+1G>A

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HGVS Expressions

  • NG_008675.1:g.33120G>A
  • NM_001849.4:c.2422+1G>A
  • NP_001840.3:p.?
  • NC_000021.9:g.46126238G>A

Associated Genes

Collagen, Type VI, Alpha-2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

113828929

Clinvar

280693

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
620725.1Saudi Arabia1PathogenicBethlem myopathy 1BMonies et al. 2017
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Contributors

  • Asha Deepthi: 19.09.2024

Edit History

  • Asha Deepthi: 20.09.2024
  • Asha Deepthi: 19.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.