NM_000404.4:c.145C>T

HGVS Expressions

  • NG_009005.1:g.29559C>T
  • NM_000404.4:c.145C>T
  • NP_000395.3:p.Arg49Cys

Associated Genes

Galactosidase, Beta-1
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Genomic Location

chr3:33072644

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

923

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
230500.2Saudi Arabia1Likely PathogenicGM1-Gangliosidosis, Type IGeorgiou et al. 2004
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