NM_198994.3:c.1024C>T

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HGVS Expressions

  • NG_031917.1:g.27524C>T
  • NM_198994.3:c.1024C>T
  • NP_945345.2:p.Arg342Trp
  • NC_000020.11:g.2403431C>T

Associated Genes

Transglutaminase 6
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

150566697

Clinvar

1333238

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613908.1Lebanon1Likely PathogenicSpinocerebellar Ataxia 35Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 08.12.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 14.02.2022
  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 08.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.