NC_000004.11:g.(?_93978239)_(94078203_?)del

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HGVS Expressions

  • NC_000004.11:g.(?_93978239)_(94078203_?)del

Associated Genes

Glutamate Receptor, Ionotropic, Delta 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

242880

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616204.1Saudi Arabia2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 18Charng et al. 2016 Proband from 'family 041' in the publica...
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Contributors

  • Asha Deepthi: 20.08.2024

Edit History

  • Asha Deepthi: 20.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.