NM_001077365.2:c.280+1G>T

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HGVS Expressions

  • NG_008896.2:g.8553G>T
  • NM_001077365.2:c.280+1G>T
  • NC_000009.12:g.131506454G>T

Associated Genes

Protein O-Mannosyltransferase 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

746823238

Clinvar

691982

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236670.2Saudi Arabia2PathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1Shaheen et al. 2017 Patient had a similarly affected decease...
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Contributors

  • Sayeeda Hana: 13.09.2022

Edit History

  • Sayeeda Hana: 13.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.