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NM_006265.2:c.1432C>T
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NM_006265.2:c.1432C>T
HGVS Expressions
NG_032862.1:g.27881C>T
NM_006265.2:c.1432C>T
NP_006256.1:p.Arg478Ter
NC_000008.11:g.116851986G>A
Associated Genes
Rad21 Cohesin Complex Component
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
748575266
Clinvar
816920
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
614701.1
United Arab Emirates
1
Pathogenic
Cornelia de Lange Syndrome 4
Saleh et al. 2021
de novo mutation
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Contributors
Pratibha Nair: 12.09.2021
Edit History
Pratibha Nair: 12.01.2023
Pratibha Nair: 12.09.2021
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