{{Rsnum
|rsid=118203657
|Gene=TSC1
|Chromosome=9
|position=132903665
|Orientation=plus
|GMAF=0.002296
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=TSC1
}}{{omim
|id=605284
|rsnum=118203657
|variant=0007
}}{{ClinVar
|rsid=118203657
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=135779052
|CHROM=9
|GMAF=0.0023
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000040016110100
|GENEINFO=TSC1:7248
|GENE_NAME=TSC1
|GENE_ID=7248
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.135779052G>A
|CLNSRC=OMIM Allelic Variant; Tuberous sclerosis database (TSC1)
|CLNORIGIN=1
|CLNSRCID=605284.0007; TSC1_00144
|CLNSIG=5
|CLNCUI=C1854465
|CLNDBN=FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB; Tuberous sclerosis 1; not provided; Tuberous sclerosis syndrome
|Disease=FOCAL CORTICAL DYSPLASIA OF TAYLOR; Tuberous sclerosis 1; not provided; Tuberous sclerosis syndrome
|CLNACC=RCV000005409.1; RCV000005410.1; RCV000034607.3; RCV000054851.1
|Tags=RV;PM;PMC;S3D;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9977; 0.002296
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C1846389; NBK1220:C1854465:191100:805; NBK1220:C0041341:191100:7199000
|COMMON=1
}}{{PMID|9328481}} Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

{{PMID|9863590|OA=1
}} Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

{{PMID|9924605}} Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

{{PMID|10227394|OA=1
}} Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.

{{PMID|16114042}} Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.