Version 2.78

Description

The F7 gene (coagulation factor VII (serum prothrombin conversion accelerator)) [HGNC Gene ID:3544] is located on chromosome 13q34. This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] [NCBI Gene ID:2155] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Display Name
F7 gene p.Arg353Gln
Part Type
Component (Describes the core component or analyte measured)
Created On
2020-07-09
Construct for LOINC Short Name
F7 R353Q

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP419575-8
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP419575-8

Language Variants Get Info

Tag Language Translation
it-IT Italian (Italy) F7, gene.p.Arg353Gln
Synonyms: Gene F7 p.Arg353Gln
nl-NL Dutch (Netherlands) F7-gen.p.Arg353Gln
es-ES Spanish (Spain) Gen F7 p.Arg353Gln
zh-CN Chinese (China) F7 基因.p.Arg353Gln