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NM_016941.4:c.329del
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NM_016941.4:c.329del
HGVS Expressions
NG_008256.1:g.5535del
NM_016941.4:c.329del
NP_058637.1:p.Val110GlyfsTer22
NC_000019.10:g.39499451del
Associated Genes
Delta-Like 3
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CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
277300.3
Saudi Arabia
2
NA
Pathogenic
Spondylocostal Dysostosis, Autosomal Recessive, 1
Maddirevula et al. 2018
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Contributors
Asha Deepthi: 11.11.2021
Edit History
Rahila Mir: 14.02.2022
Asha Deepthi: 11.11.2021
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