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NM_003880.3:c.589G>C
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NM_003880.3:c.589G>C
HGVS Expressions
NG_011748.1:g.15923G>C
NM_003880.3:c.589G>C
NP_003871.1:p.Ala197Pro
NC_000006.12:g.112064997G>C
Associated Genes
Cellular Communication Network Factor 6
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Uncertain Significance
Variant Type
Substitution
dbSNP
1554313639
Clinvar
637051
Epidemiology in the Arab World
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Syria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
208230.G.1.1
Syria
2
NA
Uncertain Significance
Progressive Pseudorheumatoid Dysplasia
Delague et al. 2005
3 siblings from 'Family 1' in the public...
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Contributors
Edit History
Asha Deepthi: 15.03.2021
Asha Deepthi: 18.02.2019
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