NM_000405.5:c.262_264del

HGVS Expressions

  • NG_009059.1:g.18698_18700del
  • NM_000405.5:c.262_264del
  • NP_000396.2:p.Lys88del
  • NC_000005.10:g.151266749_151266751del

Associated Genes

GM2 Activator
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

976256

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272750.1.1Saudi Arabia2NAPathogenicGM2-Gangliosidosis, AB VariantSchepers et al. 1996 'Patient A' from the publication
272750.1.2Saudi Arabia1NASchepers et al. 1996 Father of 272750.1.1
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