NM_000426.4:c.1762del

  1. Home
  2. NM_000426.4:c.1762del

HGVS Expressions

  • NG_008678.1:g.314693del
  • NM_000426.4:c.1762del
  • NP_000417.3:p.Ala588fs
  • NC_000006.12:g.129192833del

Associated Genes

Laminin, Alpha-2
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

786205654

Clinvar

191334

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607855.3Saudi Arabia2Likely PathogenicMuscular Dystrophy, Congenital Merosin-Deficient, 1A
Download Table

Contributors

  • Pratibha Nair: 06.12.2023

Edit History

  • Pratibha Nair: 06.12.2023
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.