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NM_000312.3:c.925G>A
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NM_000312.3:c.925G>A
HGVS Expressions
NG_016323.1:g.15066G>A
NM_000312.3:c.925G>A
NP_000303.1:p.Ala309Thr
NC_000002.12:g.127428485G>A
Associated Genes
Protein C
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
121918146
Clinvar
662
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
612304.4.1
Lebanon
2
Pathogenic
Thrombophilia Due to Protein C Deficiency, Autosomal Recessive
Tjeldhorn et al. 2010
612304.4.2
Lebanon
2
Pathogenic
Thrombophilia Due to Protein C Deficiency, Autosomal Recessive
Tjeldhorn et al. 2010
Daughter of 612304.4.1
612304.4.3
Lebanon
2
Pathogenic
Thrombophilia Due to Protein C Deficiency, Autosomal Recessive
Tjeldhorn et al. 2010
Sister of 612304.4.1
612304.4.4
Lebanon
2
Pathogenic
Thrombophilia Due to Protein C Deficiency, Autosomal Recessive
Tjeldhorn et al. 2010
Sister of 612304.4.1
612304.4.5
Lebanon
2
Pathogenic
Thrombophilia Due to Protein C Deficiency, Autosomal Recessive
Tjeldhorn et al. 2010
Brother of 612304.4.1
612304.4.6
Lebanon
1
Pathogenic
Tjeldhorn et al. 2010
Father of 612304.4.1
612304.4.7
Lebanon
1
Pathogenic
Tjeldhorn et al. 2010
Mother of 612304.4.1
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Contributors
Pratibha Nair: 08.04.2020
Edit History
Pratibha Nair: 22.11.2022
Pratibha Nair: 08.04.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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