NM_001077365.2:c.443C>A

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  2. NM_001077365.2:c.443C>A

HGVS Expressions

  • NG_008896.1:g.11025C>A
  • NM_001077365.2:c.443C>A
  • NP_001070833.1:p.Thr148Asn

Associated Genes

Protein O-Mannosyltransferase 1
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Genomic Location

chr9:131508926

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1564341846

Clinvar

562183

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613155.1.1Lebanon1PathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1von der Hagen et al. 2020
613155.1.2Lebanon1PathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1von der Hagen et al. 2020 Younger sister of the proband 613155.1.1
613155.1.3Lebanon1Pathogenicvon der Hagen et al. 2020 Mother of the proband 613155.1.1
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Contributors

  • Sami Bizzari: 17.11.2020

Edit History

  • Sami Bizzari: 17.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.