LP309968-8
F5 gene.c.1691G>A
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Description
A guanine to adenine change at nucleotide 1691 in the Factor V gene (F5 c.1691G>A) is responsible for Factor V Leiden (FVL), a disorder associated with an increased risk of thrombosis. Normally, Factor V is a procoagulant and converts prothrombin to thrombin, and activated protein C (APC) regulates coagulation by inhibiting Factor V. The F5 c.1691G>A mutation eliminates the Factor V cleavage site where APC normally acts. Patients who are heterozygous for one copy of F5 c.1691G>A have a 7-fold increased lifetime risk of thrombosis, while those who have two copies of the mutation have 20- to 80- times the lifetime risk compared to those that have two normal copies. [NCBI Books: NBK534802] Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- F5 gene c.1691G>A
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2019-02-12
- Construct for LOINC Short Name
- F5 c.1691G>A
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | F5 基因.c.1691G>A Synonyms: F5 基因 c.1691G>A |
| nl-NL | Dutch (Netherlands) | F5-gen c.1691G>A |
| it-IT | Italian (Italy) | F5, gene.c.1691G>A Synonyms: Gene F5 c.1691G>A |
| es-ES | Spanish (Spain) | Gen F5 c.1691G> A |
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