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 Name
F7 gene.p.Arg353Gln
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