NM_000426.3:c.1300C>T

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HGVS Expressions

  • NG_008678.1:g.287529C>T
  • NM_000426.3:c.1300C>T
  • NP_000417.2:p.Arg434Ter

Associated Genes

Laminin, Alpha-2
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Genomic Location

chr6:129165669

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1374568851

Clinvar

477436

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607855.2Lebanon1PathogenicMuscular Dystrophy, Congenital Merosin-Deficient, 1ANair et al. 2018
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Contributors

  • Pratibha Nair: 28.04.2020

Edit History

  • Pratibha Nair: 28.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.