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NM_001122630.2:c.670C>T
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NM_001122630.2:c.670C>T
HGVS Expressions
NG_008022.1:g.5979C>T
NM_001122630.2:c.670C>T
NP_000067.1:p.Gln235Ter
NC_000011.10:g.2884787G>A
Associated Genes
Cyclin-Dependent Kinase Inhibitor 1C
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
483352989
Clinvar
132862
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
130650.1
United Arab Emirates
1
Likely Pathogenic
Beckwith-Wiedemann Syndrome
Bastaki et al. 2016
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Contributors
Sayeeda Hana: 08.07.2020
Edit History
Sami Bizzari: 24.01.2024
Pratibha Nair: 02.01.2023
Pratibha Nair: 23.08.2022
Rahila Mir: 17.02.2022
Sayeeda Hana: 08.07.2020
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