NM_000521.3:c.1507T>C

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HGVS Expressions

  • NG_009770.2:g.85495T>C
  • NM_000521.3:c.1507T>C
  • NP_000512.1:p.Trp503Arg
  • NC_000005.10:g.74720517T>C

Associated Genes

Hexosaminidase B
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1554037093

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268800.G.1Lebanon6PathogenicSandhoff DiseaseAl-Jasmi et al. 2013 6 compound heterozygous Lebanese patient...
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Contributors

  • Pratibha Nair: 20.05.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Rahila Mir: 09.02.2022
  • Sayeeda Hana: 26.09.2021
  • Sayeeda Hana: 09.06.2021
  • Pratibha Nair: 05.07.2020
  • Pratibha Nair: 24.12.2018
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© CAGS 2024. All rights reserved.