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NM_016941.4:c.599_603dup
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NM_016941.4:c.599_603dup
HGVS Expressions
NG_008256.1:g.9083GCGGT[3]
NM_016941.4:c.599_603dup
NP_058637.1:p.Pro202AlafsTer41
NC_000019.10:g.39502999GCGGT[3]
Associated Genes
Delta-Like 3
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Microsatellite
dbSNP
786200899
Clinvar
6828
Epidemiology in the Arab World
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Arab
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
277300.5
Arab
2
NA
Pathogenic
Spondylocostal Dysostosis, Autosomal Recessive, 1
Maddirevula et al. 2018
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Contributors
Asha Deepthi: 11.11.2021
Edit History
Asha Deepthi: 11.11.2021
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
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Jordan
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Mauritania
Morocco
Oman
Palestine
Qatar
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Somalia
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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