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NM_001017420.3:c.1132-7A>G
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NM_001017420.3:c.1132-7A>G
HGVS Expressions
NG_008117.1:g.19300A>G
NM_001017420.3:c.1132-7A>G
NP_001017420.1:p.?
NC_000008.11:g.27788840A>G
Associated Genes
Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
80359862
Clinvar
21234
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
268300.1
Saudi Arabia
2
Likely Pathogenic
Roberts-SC Phocomelia Syndrome
Monies et al. 2017
268300.2
Saudi Arabia
2
Likely Pathogenic
Roberts-SC Phocomelia Syndrome
Monies et al. 2017
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Contributors
Asha Deepthi: 23.10.2024
Edit History
Asha Deepthi: 23.10.2024
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