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NM_016302.4:c.1016+1G>C
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NM_016302.4:c.1016+1G>C
HGVS Expressions
NG_016864.2:g.31295G>C
NM_016302.4:c.1016+1G>C
NP_057386.2:p.?
NC_000003.12:g.3153423C>G
Associated Genes
Cereblon
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CTGA Clinical Significance
Uncertain Significance
Variant Type
Substitution
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
607417.1
United Arab Emirates
2
Uncertain Significance
Intellectual Developmental Disorder, Autosomal Recessive 2
Saleh et al. 2021
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Contributors
Pratibha Nair: 01.02.2022
Edit History
Sayeeda Hana: 07.12.2022
Pratibha Nair: 01.02.2022
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