24477-2
F2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
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Part Descriptions
LP14459-9 F2 gene
Factor II DNA analysis: a point mutation (G20210A) in the Factor II (prothrombin) gene is the second most common cause of inherited thrombosis. The mutation substitutes a guanine with an adenine at nucleotide 20210. Up to 20% of inherited thrombophilia is due to this mutation. Incidence is 1-2% among Caucasians and 0.1% in African Americans. Heterozygous carriers of this mutation have prothrombin levels 30% higher than normal and have an associated 3-fold increased risk for venous thrombosis. The prothrombin is cleaved to thrombin which acts like a serine protease in the coagulation cascade. This results in the production of fibrin and promotes clotting activity. Mutation has also been reported in patients with idiopathic portal vein thrombosis, patients using oral contraceptives, and pregnant patients with placental abruptions and fetal growth restrictions. Up to 40% of patients with Factor II mutation also carry the Factor V Leiden mutation.
Source: Regenstrief Institute
LP14459-9 F2 gene
The F2 gene (coagulation factor II (thrombin)) [HGNC Gene ID:3535] is located on chromosome 11p11. Coagulation factor II is proteolytically cleaved to form thrombin in the first step of the coagulation cascade which ultimately results in the stemming of blood loss. F2 also plays a role in maintaining vascular integrity during development and postnatal life. Finally, peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in F2 leads to various forms of thrombosis and dysprothrombinemia. [provided by RefSeq, Nov 2014] [NCBI Gene ID:2147]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- F2 gene mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- F2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- F2 gene Mut Tested Bld/T
- Display Name
- F2 gene mutations tested for Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- F2 gene variants tested for, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0o
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 13018
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-DE | German (Germany) | F2-Gen Mutationen getestet auf: |
es-AR | Spanish (Argentina) | estudio de mutaciones genéticas F2: |
es-ES | Spanish (Spain) | Gen F2 Análisis de mutaciones para...: |
es-MX | Spanish (Mexico) | Mutaciones del gen F2 analizadas para: |
fr-CA | French (Canada) | Gène F2, Mutations testées: |
fr-FR | French (France) | F2 gène mutations recherchées: |
it-IT | Italian (Italy) | F2, gene, mutazioni testate per: Synonyms: Gene F2 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | F2 유전자 돌연변이 검사용: |
nl-NL | Dutch (Netherlands) | F2-gen geteste mutaties: Synonyms: f2 gen molgen |
pt-BR | Portuguese (Brazil) | F2 teste para mutação do gene: Synonyms: Prothrombin precursor; |
ru-RU | Russian (Russian Federation) | F2 ген мутации тестирован на: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | F2 geni mutasyonlar, test edilen: |
zh-CN | Chinese (China) | F2 基因 已测试的突变: Synonyms: 全血或组织; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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