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NM_001378615.1:c.3084del
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NM_001378615.1:c.3084del
HGVS Expressions
NG_013035.1:g.98559del
NM_001378615.1:c.3084del
NP_001365544.1:p.Lys1029fs
NC_000004.12:g.15563424del
Associated Genes
Coiled-Coil And C2 Domains-Containing Protein 2A
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
386833749
Clinvar
56301
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
612284.1
Saudi Arabia
2
NA
Pathogenic
Meckel Syndrome, Type 6
Maddirevula et al. 2018;
Shaheen et al. 2017;
Shaheen et al. 2015
Subject had an older stillbirth brother ...
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Contributors
Asha Deepthi: 27.10.2021
Edit History
Sayeeda Hana: 15.09.2022
Asha Deepthi: 27.10.2021
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Algeria
Bahrain
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Arab Countries with reported incidence
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