NM_001080414.4:c.5922T>G

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HGVS Expressions

  • NG_033118.2:g.150055T>G
  • NM_001080414.4:c.5922T>G
  • NP_001073883.2:p.Ser1974Arg

Associated Genes

Coiled-Coil Domain-Containing Protein 88C
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Genomic Location

chr14:91272790

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

777585873

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616053.1Lebanon1Likely PathogenicSpinocerebellar Ataxia 40Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 19.11.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 19.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.