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NM_017755.6:c.1478del
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NM_017755.6:c.1478del
HGVS Expressions
NG_028215.1:g.31131del
NM_017755.6:c.1478del
NP_060225.4:p.Asn493IlefsTer18
NC_000005.10:g.6607231del
Associated Genes
NOL1/NOP2/SUN Domain Family, Member 2
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CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
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
611091.3
Saudi Arabia
2
Pathogenic
Mental Retardation, Autosomal Recessive 5
Shaheen et al. 2019
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Contributors
Sayeeda Hana: 30.01.2022
Edit History
Rahila Mir: 07.02.2022
Sayeeda Hana: 30.01.2022
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