Version 2.78

Part Description

LP265316-2   KIT gene.c.2447A>T
The D816V (c.2447A>T) mutation in exon 17 of the KIT gene on chromosome 4 is associated with systemic mastocytosis (SM) and less commonly gastrointestinal stromal tumors (GIST), acute myeloid leukemia (AML), and germ cell tumors. PMID: 21354053 The vast majority of patients with SM carry the somatic D816V mutation. According to the World Health Organization, the presence of the mutation is one of the minor criteria for a diagnosis of SM. PMID: 28031180 The presence of D816V in multiple cells lines, including mast cells, bone marrow myeloid cells, and lymphoid cells, is also associated with a greater risk of disease progression. PMID: 24750133 Source: Regenstrief LOINC

Fully-Specified Name

Component
KIT gene.c.2447A>T
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
KIT c.2447A>T Bld/T Ql
Display Name
KIT gene c.2447A>T Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
KIT gene c.2447A>T, Blood or tissue specimen

Example Answer List: LL744-4

Source: Regenstrief Institute
Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.64
Last Updated
Version 2.73
Order vs. Observation
Both
Common Test Rank Get Info
6982

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen KIT c.2447A>T:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) KIT gene.c.2447A> T:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) KIT gène c.2447A>T:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) KIT, gene.c.2447A>T:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene KIT Gene KIT.c.2447A>T Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) KIT-gen.c.2447A>T:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: KIT gen molgen
zh-CN Chinese (China) KIT 基因.c.2447A>T:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 C-Kit;CD117;PBT;SCFR;mast/stem cell growth factor receptor;proto-oncogene tyrosine-protein kinase Kit;soluble KIT variant 1;v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog;肥大细胞/干细胞生长因子受体;干细胞/肥大细胞生长因子受体;原癌基因酪氨酸激酶 Kit;可溶性 KIT 变异体 1;可溶性 KIT 变体 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 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=88519-4