NM_001904.4:c.999C>G

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HGVS Expressions

  • NG_013302.2:g.32820C>G
  • NM_001904.4:c.999C>G
  • NP_001895.1:p.Tyr333Ter
  • NC_000003.12:g.41227270C>G

Associated Genes

Catenin, Beta-1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

778624338

Clinvar

987152

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615075.1Saudi Arabia1PathogenicNeurodevelopmental Disorder with Spastic Diplegia and Visual DefectsMonies et al. 2017
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Contributors

  • Asha Deepthi: 10.01.2025

Edit History

  • Asha Deepthi: 10.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.