NM_001352754.2:c.51+5G>T

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HGVS Expressions

  • NM_001352754.2:c.51+5G>T
  • NC_000002.12:g.231206294G>T

Associated Genes

Armadillo Repeat-Containing Protein 9
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1114167447

Clinvar

427931

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617622.3Saudi Arabia2Likely PathogenicJoubert Syndrome 30Monies et al. 2019
617622.4Saudi Arabia2Likely PathogenicJoubert Syndrome 30Monies et al. 2019
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Contributors

  • Pratibha Nair: 18.12.2023

Edit History

  • Pratibha Nair: 18.12.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.