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NC_000016.10:g.(?_90019633)_(90019768_?)del
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NC_000016.10:g.(?_90019633)_(90019768_?)del
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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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
616726.1.1
United Arab Emirates
2
Likely Pathogenic
Ciliary Dyskinesia, Primary, 33
Khan 2022
Proband. Disease attributed to homozygou...
616726.1.2
United Arab Emirates
1
Khan 2022
Healthy father of the proband. Both ADGR...
616726.1.3
United Arab Emirates
1
Khan 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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