NM_000520.5:c.910_912delTTC

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HGVS Expressions

  • NG_009017.2:g.32030_32032del
  • NM_000520.5:c.910_912delTTC
  • NP_000511.2:p.Phe305del
  • NC_000015.10:g.72349153_72349155del

Associated Genes

Hexosaminidase A
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

121907960

Clinvar

188812

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.6.1Morocco1PathogenicTay-Sachs DiseaseNavon and Proia, 1991 Moroccan Jew; Compound heterozygous
272800.6.2Morocco1PathogenicNavon and Proia, 1991 Father of 272800.6.1
272800.6.4Morocco1PathogenicNavon and Proia, 1991 First degree cousin of 272800.6.1
272800.7.1Morocco1Navon and Proia, 1991 Moroccan Jew; First cousin of 272800.7.2...
272800.7.2Morocco1Navon and Proia, 1991 Moroccan Jew; First cousin of 272800.7.1...
272800.8Morocco1Navon and Proia, 1991 Moroccan Jew
272800.G.4Iraq4Karpati et al. 2004 4 Iraqi Jews
272800.G.7Morocco22Kaufman et al. 1997 22 Moroccan Jewish carriers
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Contributors

  • Pratibha Nair: 16.07.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Sayeeda Hana: 17.09.2020
  • Pratibha Nair: 25.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.