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NM_018451.4:c.125_126del
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NM_018451.4:c.125_126del
HGVS Expressions
NG_009165.2:g.15047_15048del
NM_018451.4:c.125_126del
NP_060921.3:p.Lys42ArgfsTer15
NC_000013.11:g.24912901_24912902del
Associated Genes
Centromeric Protein J
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CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1441504335
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
608393.1.1
Saudi Arabia
2
Pathogenic
Microcephaly 6, Primary, Autosomal Recessive
Shaheen et al. 2019
608393.1.2
Saudi Arabia
2
Pathogenic
Microcephaly 6, Primary, Autosomal Recessive
Shaheen et al. 2019
Sibling of 608393.1.1
608393.1.3
Saudi Arabia
2
Pathogenic
Microcephaly 6, Primary, Autosomal Recessive
Shaheen et al. 2019
Sibling of 608393.1.1
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Contributors
Sayeeda Hana: 21.11.2021
Edit History
Rahila Mir: 08.02.2022
Sayeeda Hana: 22.11.2021
Sayeeda Hana: 21.11.2021
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