Version 2.80

Description

The HR2 allele is a complex haplotype in exon 13 of the Factor V (F5) gene that consists of multiple polymorphisms throughout the gene, at least 4 of which result in amino acid changes. The HR2 allele may result in lower FV levels, and patients who are compound heterozygous carriers of both HR2 and FV Leiden have increased resistance to activated protein C (APC) and a pro-thrombotic phenotype. In fact, coinheritance of HR2 with the FV Leiden mutation is associated with a 3-4-fold increased risk of venous thrombosis compared to inheritance of FV Leiden alone. The defining amino acid change of HR2 was originally thought to be His1299Arg, but after realizing that multiple missense variations are co-inherited with the His1299Arg change and by expressing each variant in isolation using recombinant DNA techniques, it was subsequently found that the Asp2194Gly change is the most important PMID: 16246256. Source: Regenstrief LOINC

Basic Part Properties

Part Name
F5 gene HR2 haplotype
Part Display Name
F5 gene HR2 haplotype
Part Type
Component (Describes the core component or analyte measured)
Created On
2019-09-25
Construct for LOINC Short Name
F5 HR2

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP411710-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) F5 基因 HR2 单体型
Synonyms: F5 基因 HR2 单体型（单倍型、单倍体型、单元型、单倍体）
nl-NL Dutch (Netherlands) F5-gen HR2-haplotype
it-IT Italian (Italy) F5, gene, aplotipo HR2
Synonyms: Aplotipo HR2 gene F5
es-ES Spanish (Spain) Haplotipo HR2 del gen 5
el-GR Greek (Greece) Γονίδιο F5 Απλότυπος HR2
Synonyms: Γονίδιο F5 Απλότυπος HR2