NM_000404.3:c.1336G>T

HGVS Expressions

  • NG_009005.1:g.83744G>T
  • NM_000404.3:c.1336G>T
  • NP_000395.2:p.Ala446Ser
  • NC_000003.12:g.33018459C>A

Associated Genes

Galactosidase, Beta-1
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
230500.G.1United Arab Emirates6PathogenicGM1-Gangliosidosis, Type IAl-Jasmi et al. 2013 3 patients from an Emirati family
© CAGS 2024. All rights reserved.