LOINC
Version 2.72

89861-9BRAF gene p.Val600Lys [Presence] in Tissue by Molecular genetics methodActive

Part Description

LP268094-2   BRAF gene.p.Val600Lys
The Val600Lys (V600K) mutation [COSMIC ID: 473] results in an amino acid substitution from a valine (V) to a lysine (K) in the BRAF gene (B-Raf proto-oncogene, serine/threonine kinase).[HGNC Gene ID:1097] The mutation causes a conformational change in the BRAF protein's G-loop activation segment of the kinase domain that makes it constitutively active and resistant to negative feedback signals. The identification of V600* mutations and their effects have led to the creation of targeted therapeutics, including vemurafenib, dabrafenib, and trametinib for the treatment of V600-mutated melanoma. The prevalence of V600 BRAF mutations that are V600K in melanoma tumors ranges across studies from 6-30%.[PMID:20630094] In addition to melanoma, BRAF mutations have been associated with a range of other cancers, including colorectal cancer (CRC), non-small-cell lung cancer (NSCLC), thyroid cancer, hairy cell leukemia (HCL), and multiple myeloma.[PMID:24955706] Source: Regenstrief LOINC

Fully-Specified Name

Component
BRAF gene.p.Val600Lys
Property
PrThr
Time
Pt
System
Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
BRAF p.V600K Tiss Ql
Display Name
BRAF gene p.Val600Lys Molgen Ql (Tiss)
Consumer Name Alpha
BRAF gene p.Val600Lys, Tissue

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 2.65
Last Updated
Version 2.65
Order vs. Observation
Observation

Language Variants Get Info

zh-CNChinese (China)
BRAF 基因.p.Val600Lys:存在情况或阈值:时间点:组织与涂片:序数型:分子遗传学类实验室方法
fr-FRFrench (France)
BRAF gène p.Val600Lys:Présence/Seuil:Ponctuel:Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)
BRAF, gene.p.Val600Lys:PrThr:Pt:Tessuto:Ord:Molgen
es-MXSpanish (Mexico)
Gen BRAF p. Val600Lys:Presencia o umbral:Punto temporal:Tejido y frotis:Ordinal:Genética molecular
es-ESSpanish (Spain)
Gen BRAF p.Val600Lys:PrThr:Punto temporal:Tejido:Ord:Genética molecular

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=89861-9