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NM_017755.6:c.1020del
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NM_017755.6:c.1020del
HGVS Expressions
NG_028215.1:g.21633del
NM_017755.6:c.1020del
NP_060225.4:p.Gly341ValfsTer15
NC_000005.10:g.6616729del
Associated Genes
NOL1/NOP2/SUN Domain Family, Member 2
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1579368865
Clinvar
828097
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
611091.1.1
United Arab Emirates
2
Pathogenic
Mental Retardation, Autosomal Recessive 5
Komara et al. 2015
611091.1.2
United Arab Emirates
1
Pathogenic
Komara et al. 2015
Parent of 611091.1.1
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Contributors
Pratibha Nair: 28.07.2020
Edit History
Pratibha Nair: 28.11.2022
Pratibha Nair: 23.08.2022
Sayeeda Hana: 05.10.2020
Pratibha Nair: 28.07.2020
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