NM_000157.3:c.259C>T

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  2. NM_000157.3:c.259C>T

HGVS Expressions

  • NG_009783.1:g.9764C>T
  • NM_000157.3:c.259C>T
  • NP_000148.2:p.Arg87Trp
  • NC_000001.11:g.155239934G>A

Associated Genes

Glucosidase, Beta, Acid
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1141814

Clinvar

4321

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
230800.2.1Lebanon1Likely PathogenicGaucher Disease, Type IEl-Zahabi et al, 2007
230800.2.2Lebanon1Likely PathogenicGaucher Disease, Type IEl-Zahabi et al, 2007 Nephew of 230800.2.1
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Contributors

  • Pratibha Nair: 23.04.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 22.03.2020
  • Pratibha Nair: 23.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.