NM_007171.4:c.226G>C

HGVS Expressions

  • NG_008896.1:g.8316G>C
  • NM_007171.4:c.226G>C
  • NP_001070833.1:p.Gly76Arg
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Genomic Location

chr9:131506217

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

3238

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613155.1.1Lebanon1Likely PathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1von der Hagen et al. 2020
613155.1.2Lebanon1Likely PathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1von der Hagen et al. 2020 Younger sister of the proband 613155.1.1
613155.1.4Lebanon1Likely Pathogenicvon der Hagen et al. 2020 Father of the proband 613155.1.1
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