NM_007171.3:c.1456delT

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HGVS Expressions

  • NG_008896.1:g.20960del
  • NM_007171.3:c.1456delT
  • NP_009102.3:p.Trp486GlyfsTer71
  • NC_000009.12:g.131518861del

Associated Genes

Protein O-Mannosyltransferase 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236670.1Qatar2Likely PathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1van Reeuwijk et al. 2006
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Contributors

  • Sami Bizzari: 04.01.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Sami Bizzari: 04.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.