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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 Name
TSC gene
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

TagLanguageTranslation
zh-CNChinese (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-EEEstonian (Estonia)TSC geen
es-ESSpanish (Spain)Gen CET
it-ITItalian (Italy)TSC, gene
Synonyms: Gene TSC
tr-TRTurkish (Turkey)TSC geni
ru-RURussian (Russian Federation)TSC ген
nl-NLDutch (Netherlands)TSC-gen
Synonyms: TSC gen
fr-FRFrench (France)TSC gène
pl-PLPolish (Poland)TSC gen
Synonyms: Gen TSC
el-GRGreek (Greece)Γονίδιο TSC
Synonyms: Γονίδιο TSC