NM_152490.5:c.448C>T

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HGVS Expressions

  • NG_033219.2:g.25053C>T
  • NM_152490.5:c.448C>T
  • NP_689703.1:p.Arg150Ter
  • NC_000001.11:g.235484429G>A

Associated Genes

Beta-1,3-N-Acetylgalactosaminyltransferase 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1282726649

Clinvar

578921

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615181.1United Arab Emirates2Likely PathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11Al Dhaibani at al. 2018 Proband
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Contributors

  • Asha Deepthi: 05.05.2021

Edit History

  • Asha Deepthi: 05.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.