{{Rsnum
|rsid=118203447
|Chromosome=9
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=TSC1
|position=132912446
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TSC1
}}{{omim
|id=605284
|rsnum=118203447
|variant=0002
}}{{ClinVar
|rsid=118203447
|Reversed=1
|FwdREF=T
|FwdALT=A,G
|REF=A
|ALT=C,T
|RSPOS=135787833
|CHROM=9
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=TSC1:7248
|GENE_NAME=TSC1
|GENE_ID=7248
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000009.11:g.135787833A>C; NC_000009.11:g.135787833A>T
|CLNORIGIN=1
|CLNSRCID=
TSC1_00049; 605284.0002; TSC1_00402
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000042357.2; RCV000005404.1; RCV000042356.2
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDBN=Tuberous sclerosis syndrome; Tuberous sclerosis 1
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1220:C0041341:191100:7199000; NBK1220:C1854465:191100:805
|CLNSRC=Tuberous sclerosis database (TSC1); OMIM Allelic Variant
|Disease=Tuberous sclerosis syndrome; Tuberous sclerosis 1
}}{{PMID Auto
|PMID=18772611
|Title=Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14.
}}

{{PMID Auto
|PMID=9242607
|Title=Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
}}

{{PMID Auto
|PMID=9803264
|Title=A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.
}}

{{PMID Auto
|PMID=10363127
|Title=Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
}}

{{PMID Auto
|PMID=10905251
|Title=Non-penetrance in tuberous sclerosis.
}}