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NM_017668.3:c.684_685del
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NM_017668.3:c.684_685del
HGVS Expressions
NG_021210.1:g.53038_53039del
NM_017668.3:c.684_685del
NP_060138.1:p.Pro229TrpfsTer85
NC_000016.10:g.15691304_15691305del
Associated Genes
Nude Neurodevelopment Protein 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
756206942
Clinvar
30787
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
614019.7.1
Saudi Arabia
2
Pathogenic
Lissencephaly 4
Alkuraya et al. 2011
From Eastern Saudi Arabia
614019.7.2
Saudi Arabia
2
Pathogenic
Lissencephaly 4
Alkuraya et al. 2011
Sister of 614019.7.1
614019.7.3
Saudi Arabia
1
Alkuraya et al. 2011
Father of 614019.7.1
614019.7.4
Saudi Arabia
1
Alkuraya et al. 2011
Mother of 614019.7.1
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Contributors
Sayeeda Hana: 29.03.2023
Edit History
Sayeeda Hana: 29.03.2023
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