NM_000157.3:c.854T>C

HGVS Expressions

  • NG_009783.1:g.12216T>C
  • NM_000157.3:c.854T>C
  • NP_000148.2:p.Phe285Ser

Associated Genes

Glucosidase, Beta, Acid
Back to search Result
Genomic Location

chr1:155237486

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
230800.1Palestine2PathogenicGaucher Disease, Type IAl-Jasmi et al. 2013
© CAGS 2024. All rights reserved.