Version 2.78

Part Description

LP19687-0   COL2A1 gene
The COL2A1 gene (collagen, type II, alpha 1) [HGNC Gene ID:2200] is located on chromosome 12q13.11. This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1280] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
COL2A1 gene mutations tested for
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
COL2A1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name
COL2A1 gene Mut Tested Bld/T
Display Name
COL2A1 gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
COL2A1 gene variants tested for, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.13
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) determinación de las mutaciones del gen COL2A1:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES Spanish (Spain) Gen COL2A1 Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Mutaciones del gen COL2A1 analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) COL2A1 gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) COL2A1, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene COL2A1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KR Korean (Korea, Republic Of) COL2A1 유전자 돌연변이 분석용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) COL2A1-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: COL2A1 gen molgen
pt-BR Portuguese (Brazil) COL2A1 teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Stickler syndrome; Primary osteoarthritis; Spondyloepiphyseal dysplasia; Cartilage collagen gene; SEDC; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) COL2A1 ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) COL2A1 geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) COL2A1 基因 已测试的突变:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: SEDC;Stickler 综合征;原发性骨关节炎;史蒂克勒氏症;脊椎骨骺发育;脊椎骨骺发育不良;软骨胶原基因;软骨胶原蛋白基因;遗传性关节眼病;Ⅱ型胶原蛋白基因;II型胶原蛋白基因;ANFH;AOM;COL11A3;MGC131516;SEDC;AOM;COL11A3;MGC131516;SEDC;OTTHUMP00000195063;cartilage collagen;chondrocalcin;collagen II, alpha-1 polypeptide;collagen, type II, 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 存在;存在与否;特征标识;身份;身份标识 已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的 已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=21658-0