LP63488-8

TSC1 gene

Active

Description

The TSC1 gene (tuberous sclerosis 1) [HGNC Gene ID:12362] 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

Reference Information

Type	Source	Reference
Webcontent	Online Mendelian Inheritance in Man^®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.	Link to OMIM

Basic Part Properties

Part Name: TSC1 gene
Part Display Name: TSC1 gene
Part Type: Component (Describes the core component or analyte measured)
Created On: 2007-04-19
Construct for LOINC Short Name: TSC1 gene

Related Codes

Code System	Code	Code Text	Code Version
HUGO Gene Nomenclature Committee (HGNC)	HGNC:12362	TSC1
National Center for Biotech Info (NCBI) Gene (National Center for Biotechnology Information (NCBI) Gene)	7248	TSC1

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

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP63488-8
ConceptMap translate: https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP63488-8

Language Variants Get Info

Tag	Language	Translation
zh-CN	Chinese (China)	TSC1 基因 Synonyms: 结节性脑硬化 1（Tuberous sclerosis 1，TSC1）
et-EE	Estonian (Estonia)	TSC1 geen
es-ES	Spanish (Spain)	Gen TSC1
it-IT	Italian (Italy)	TSC1, gene Synonyms: Gene TSC1
tr-TR	Turkish (Turkey)	TSC1 geni
ru-RU	Russian (Russian Federation)	TSC1 ген
nl-NL	Dutch (Netherlands)	TSC1-gen Synonyms: TSC1 gen
fr-FR	French (France)	TSC1 gène
pl-PL	Polish (Poland)	TSC1 gen Synonyms: Gen TSC1
el-GR	Greek (Greece)	Γονίδιο TSC1 Synonyms: Γονίδιο TSC1

LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.