Version 2.77

Description

The TSC gene (tuberous sclerosis 1) gene is located on chromosome 9q34. This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] [NCBI Gene ID:7248] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Display Name
TSC gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-10-23
Construct for LOINC Short Name
TSC gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP32669-1
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP32669-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) TSC 基因
Synonyms: Bournerille 氏骨关节炎;Bournerille 骨关节炎;Bournerille′s 骨关节炎;Bourneville Disease;Bourneville 病;Epiloia;TSC1+TSC2;家族性结节性硬化病;皮脂腺瘤;皮脂腺瘤（Adenoma sebaceum）;结节性(脑)硬化综合征;结节性(脑)硬化综合征（Epiloia Syndrome）;结节性硬化;结节性硬化（tuberoussclerosis，epiloia，Bournerille′s 骨关节炎）;结节性硬化症;结节性硬
et-EE Estonian (Estonia) TSC geen
es-ES Spanish (Spain) Gen CET
it-IT Italian (Italy) TSC, gene
Synonyms: Gene TSC
tr-TR Turkish (Turkey) TSC geni
ru-RU Russian (Russian Federation) TSC ген
nl-NL Dutch (Netherlands) TSC-gen
Synonyms: TSC gen