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NM_001375405.1:c.595G>C
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NM_001375405.1:c.595G>C
HGVS Expressions
NG_042125.1:g.29440G>C
NM_001375405.1:c.595G>C
NP_001362334.1:p.Ala199Pro
NC_000005.10:g.123399153C>G
Associated Genes
Centrosomal Protein 120
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
367600930
Clinvar
189370
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
616300.1
Saudi Arabia
2
NA
Pathogenic
Short-Rib Thoracic Dysplasia 13 with or without Polydactyly
Maddirevula et al. 2018;
Shaheen et al. 2016;
Shaheen et al. 2015
616300.2
Saudi Arabia
2
NA
Pathogenic
Short-Rib Thoracic Dysplasia 13 with or without Polydactyly
Maddirevula et al. 2018;
Shaheen et al. 2016;
Shaheen et al. 2015
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Contributors
Asha Deepthi: 28.10.2021
Edit History
Asha Deepthi: 28.10.2021
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