NC_000016.10:g.(?_90019633)_(90019768_?)del

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HGVS Expressions

  • NC_000016.10:g.(?_90019633)_(90019768_?)del
  • NC_000016.10:g.(?_90019633)_(90019768_?)del

Associated Genes

Growth Arrest-Specific 8
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616726.1.1United Arab Emirates2Likely PathogenicCiliary Dyskinesia, Primary, 33Khan 2022 Proband. Disease attributed to homozygou...
616726.1.2United Arab Emirates1Khan 2022 Healthy father of the proband. Both ADGR...
616726.1.3United Arab Emirates1Khan 2022 Healthy mother of the proband.
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Contributors

  • Sami Bizzari: 25.09.2023

Edit History

  • Sami Bizzari: 26.09.2023
  • Sami Bizzari: 25.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.