{{Rsnum
|rsid=118203576
|Gene=TSC1
|Chromosome=9
|position=132905818
|Orientation=plus
|GMAF=0.02204
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=TSC1
}}{{omim
|id=605284
|rsnum=118203576
|variant=0003
}}{{ClinVar
|rsid=118203576
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=135781205
|CHROM=9
|GMAF=0.022
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000140016110100
|GENEINFO=TSC1:7248
|GENE_NAME=TSC1
|GENE_ID=7248
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.135781205T>C
|CLNSRC=OMIM Allelic Variant; Tuberous sclerosis database (TSC1)
|CLNORIGIN=1
|CLNSRCID=605284.0003; TSC1_00108
|CLNSIG=5
|CLNCUI=C1854465
|CLNDBN=Tuberous sclerosis 1; Tuberous sclerosis syndrome
|Disease=Tuberous sclerosis 1; Tuberous sclerosis syndrome
|CLNACC=RCV000005405.1; RCV000042078.2
|Tags=RV;PM;PMC;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.978; 0.02204
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1220:C1854465:191100:805; NBK1220:C0041341:191100:7199000
|COMMON=1
}}{{PMID Auto
|PMID=9242607
|Title=Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
}}

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

{{PMID Auto
|PMID=16114042
|Title=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.
}}

{{PMID Auto
|PMID=17304050
|Title=Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
}}