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NM_001286577.1:c.1429del
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NM_001286577.1:c.1429del
HGVS Expressions
NG_041791.1:g.57701del
NM_001286577.1:c.1429del
NP_001273506.1:p.Lys476_Ile477insTer
Associated Genes
C2 Calcium-Dependent Domain-Containing Protein 3
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Genomic Location
chr11:74118319
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1406007301
Epidemiology in the Arab World
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Palestine
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615948.2.1
Palestine
1
Pathogenic
Orofaciodigital Syndrome XIV
Cortés et al, 2016
20 weeks old fetus
615948.2.2
Palestine
1
Pathogenic
Orofaciodigital Syndrome XIV
Cortés et al, 2016
Brother of 615948.2.1. 15 weeks old fetu...
615948.2.4
Palestine
1
Pathogenic
Cortés et al, 2016
Mother of 615948.2.1
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Contributors
Sayeeda Hana: 13.05.2020
Edit History
Rahila Mir: 17.02.2022
Sayeeda Hana: 13.05.2020
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Algeria
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Palestine
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