Version 2.77

Description

ABCB1 (also known as MDR1) is one of many ubiquitous adenosine triphosphate (ATP)-binding cassette (ABC) genes. ABCB1 encodes a transmembrane transporter, P-glycoprotein (P-gp), and plays a role in cell defense against environmental attacks. Many polymorphisms have been reported in this gene, including 1236C>T (rs1128503) in exon 12, 2677G>T (rs2032582) in exon 21 and 3435C>T (rs1045642) in exon 26. The 2677G>T variant is associated with a 2.6 fold higher risk of developing lung cancer. Individuals homozygous for the 2677G>T variant and heterozygous for the 3435C>T variant have up to a 20 fold higher risk of developing lung cancer. Source: Regenstrief LOINC, PMID: 17120199

Basic Part Properties

Part Display Name
ABCB1 gene c.3435C>T
Part Type
Component (Describes the core component or analyte measured)
Created On
2012-07-17
Construct for LOINC Short Name
ABCB1 c.3435C>T

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP156998-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) ABCB1 基因.c.3435C>T
es-ES Spanish (Spain) Gen ABCB1 (MDR1) c.3435C>T
it-IT Italian (Italy) ABCB1 gene.c.3435C>T
Synonyms: Gene ABCB1 c.3435C>T
tr-TR Turkish (Turkey) ABCB1 genie.c.3435C>T
ru-RU Russian (Russian Federation) ABCB1 ген.c.3435C>T
nl-NL Dutch (Netherlands) ABCB1-gen.c.3435C>T