NM_025139.6:c.1559C>T

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  2. NM_025139.6:c.1559C>T

HGVS Expressions

  • NM_025139.6:c.1559C>T
  • NP_079415.4:p.Pro520Leu
  • NC_000002.12:g.231282066C>T

Associated Genes

Armadillo Repeat-Containing Protein 9
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1114167449

Clinvar

427936

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617622.2.1Saudi Arabia2Likely PathogenicJoubert Syndrome 30Van De Weghe et al. 2017 Proband
617622.2.2Saudi Arabia2Likely PathogenicJoubert Syndrome 30Van De Weghe et al. 2017 Affected relative of the proband.
617622.2.3Saudi Arabia1Van De Weghe et al. 2017 Healthy father of 617622.2.1
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Contributors

  • Sami Bizzari: 13.09.2022

Edit History

  • Sami Bizzari: 13.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.