NM_000426.3:c.8244+3_8244+6del

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  2. NM_000426.3:c.8244+3_8244+6del

HGVS Expressions

  • NG_008678.1:g.614346_614349del
  • NM_000426.3:c.8244+3_8244+6del
  • NC_000006.12:g.129492486_129492489del

Associated Genes

Laminin, Alpha-2
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

746678525

Clinvar

447695

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607855.1Lebanon2PathogenicMuscular Dystrophy, Congenital Merosin-Deficient, 1ANair et al. 2018
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Contributors

  • Pratibha Nair: 19.04.2020

Edit History

  • Sami Bizzari: 10.06.2021
  • Pratibha Nair: 09.06.2021
  • Pratibha Nair: 19.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.