NM_001848.3:c.1693C>T

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  2. NM_001848.3:c.1693C>T

HGVS Expressions

  • NG_008674.1:g.22423C>T
  • NM_001848.3:c.1693C>T
  • NP_001839.2:p.Arg565Ter
  • NC_000021.9:g.45999171C>T

Associated Genes

Collagen, Type VI, Alpha-1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1304888945

Clinvar

596692

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
254090.4Saudi Arabia2Likely PathogenicUllrich Congenital Muscular Dystrophy 1Monies et al. 2019 2 siblings died of hypotonia
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Contributors

  • Pratibha Nair: 14.12.2023

Edit History

  • Pratibha Nair: 14.12.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.