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NM_021939.4:c.1034dup
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NM_021939.4:c.1034dup
HGVS Expressions
NG_015860.1:g.11937dup
NM_021939.4:c.1034dup
NP_068758.3:p.His346AlafsTer27
NC_000017.11:g.41819646dup
Associated Genes
FK506-Binding Protein 10
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CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
1555616685
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
610968.1
Saudi Arabia
2
NA
Pathogenic
Osteogenesis Imperfecta, Type XI
Maddirevula et al. 2018
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Contributors
Asha Deepthi: 25.11.2021
Edit History
Rahila Mir: 14.02.2022
Asha Deepthi: 25.11.2021
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