NM_000426.3:c.8244+3_8246+6delAAG

HGVS Expressions

  • NG_008678.1:g.614346_614349delAAG
  • NM_000426.3:c.8244+3_8246+6delAAG

Associated Genes

Laminin, Alpha-2
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Genomic Location

chr6:129492486

Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
607855.1Lebanon2PathogenicMuscular Dystrophy, Congenital Merosin-Deficient, 1ANair et al. 2018
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