NM_000169.3:c.1277_1278del

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HGVS Expressions

  • NG_007119.1:g.15142_15143del
  • NM_000169.3:c.1277_1278del
  • NP_000160.1:p.Lys426ArgfsTer?
  • NC_000023.11:g.101397823_101397824del

Associated Genes

Galactosidase, Alpha
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

dbSNP

869312249

Clinvar

10772

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
301500.1United Arab Emirates1Likely PathogenicFabry DiseaseAl-Jasmi et al. 2013
301500.2United Arab Emirates1PathogenicFabry DiseaseAl-Salam et al. 2012
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Contributors

  • Sayeeda Hana: 17.08.2020

Edit History

  • Pratibha Nair: 28.11.2022
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 14.09.2021
  • Sayeeda Hana: 05.10.2020
  • Sayeeda Hana: 17.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.