NM_000520.5:c.498delC

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HGVS Expressions

  • NG_009017.2:g.28040del
  • NM_000520.5:c.498delC
  • NP_000511.2:p.Pro168LeufsTer31
  • NC_000015.10:g.72353140del

Associated Genes

Hexosaminidase A
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.16Syria1PathogenicPeleg et al. 1995 Compound heterozygous
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Contributors

  • Pratibha Nair: 16.07.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 25.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.