{{Rsnum
|rsid=45512692
|Chromosome=16
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=TSC2
|position=2048649
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NTHL1,TSC2
}}{{omim
|id=191092
|rsnum=45512692
|variant=0003
}}{{ClinVar
|rsid=45512692
|Reversed=0
|FwdREF=A
|FwdALT=T
|REF=A
|ALT=T
|RSPOS=2098650
|CHROM=16
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050068000000000102110100
|GENEINFO=NTHL1:4913; TSC2:7249
|GENE_NAME=NTHL1; TSC2
|GENE_ID=4913; 7249
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.2098650A>T
|CLNSRC=OMIM Allelic Variant; Tuberous sclerosis database (TSC2)
|CLNORIGIN=1
|CLNSRCID=191092.0003; TSC2_00047
|CLNSIG=5
|CLNCUI=C1860707
|CLNDBN=Tuberous sclerosis 2; Tuberous sclerosis syndrome
|Disease=Tuberous sclerosis 2; Tuberous sclerosis syndrome
|CLNACC=RCV000013202.15; RCV000042837.2
|Tags=PM;PMC;GNO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C1860707:613254:805; NBK1220:C0041341:191100:7199000
}}{{PMID Auto
|PMID=8825048
|Title=Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.
|OA=1
}}