NM_000520.6:c.2T>C

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  2. NM_000520.6:c.2T>C

HGVS Expressions

  • NG_009017.2:g.5209T>C
  • NM_000520.6:c.2T>C
  • NP_000511.2:p.Met1Thr
  • NC_000015.10:g.72375971A>G

Associated Genes

Hexosaminidase A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786204721

Clinvar

189126

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.20United Arab Emirates2PathogenicTay-Sachs DiseaseAl-Shamsi et al. 2016; Saleh et al. 2021 Affected cousin
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Contributors

  • Pratibha Nair: 15.07.2020

Edit History

  • Sayeeda Hana: 27.11.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 15.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.