NM_001077365.2:c.1175+4_1175+7del

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HGVS Expressions

  • NG_008896.2:g.15434_15437del
  • NM_001077365.2:c.1175+4_1175+7del
  • NP_001070833.1:p.?
  • NC_000009.12:g.131513335_131513338del

Associated Genes

Protein O-Mannosyltransferase 1
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1588409344

Clinvar

800791

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236670.4Saudi Arabia2PathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1Shaheen et al. 2017 Patient had a deceased older brother wit...
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Contributors

  • Sayeeda Hana: 26.09.2022

Edit History

  • Sayeeda Hana: 05.10.2022
  • Sayeeda Hana: 26.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.