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NM_018965.4:c.40+4_40+6del
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NM_018965.4:c.40+4_40+6del
HGVS Expressions
NG_011561.1:g.5146_5148del
NM_018965.4:c.40+4_40+6del
NC_000006.12:g.41163038_41163040del
Associated Genes
Triggering Receptor Expressed on Myeloid Cells 2
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
386834142
Clinvar
56723
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
605086.1.1
Lebanon
2
Pathogenic
Pure Early-Onset Dementia Without Bone Cysts
Chouery et al, 2008
605086.1.2
Lebanon
2
Pathogenic
Pure Early-Onset Dementia Without Bone Cysts
Chouery et al, 2008
Sibling of 605086.1.1
605086.1.3
Lebanon
2
Pathogenic
Pure Early-Onset Dementia Without Bone Cysts
Chouery et al, 2008
Sibling of 605086.1.1
605086.1.4
Lebanon
1
Pathogenic
Chouery et al, 2008
Sibling of 605086.1.1
605086.1.5
Lebanon
1
Pathogenic
Chouery et al, 2008
Sibling of 605086.1.1
605086.1.6
Lebanon
1
Pathogenic
Chouery et al, 2008
Sibling of 605086.1.1
605086.1.7
Lebanon
1
Pathogenic
Chouery et al, 2008
Sibling of 605086.1.1
605086.1.8
Lebanon
1
Pathogenic
Chouery et al, 2008
Mother of 605086.1.1
605086.1.9
Lebanon
1
Pathogenic
Chouery et al, 2008
Father of 605086.1.1
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Contributors
Pratibha Nair: 07.03.2019
Edit History
Asha Deepthi: 26.09.2021
Pratibha Nair: 09.06.2021
Pratibha Nair: 07.03.2019
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Arab Countries with reported incidence
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