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TSC1 - TSC complex subunit 1

Synonym(s) : hamartin, KIAA0243, LAM
Previous symbols and names : TSC, tuberous sclerosis 1
Type : gene with protein product
Chromosomal location : 9q34
OMIM: 605284
HGNC: 12362
UniProtKB: Q92574
Genatlas: TSC1
GenCC: TSC1
Ensembl: ENSG00000165699
IUPHAR-DB: -
Reactome: Q92574
LOVD: TSC1

Diseases list

Disease-causing germline mutation(s) in Tuberous sclerosis complex ORPHA:805
Disease-causing somatic mutation(s) in Isolated focal cortical dysplasia type IIb ORPHA:269008
Disease-causing somatic mutation(s) in Lymphangioleiomyomatosis ORPHA:538
Candidate gene tested in Adult hepatocellular carcinoma ORPHA:210159

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (243)

Research activities on this gene

Specialised Social Services

Eurordis directory

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