{{Rsnum
|rsid=45517214
|Chromosome=16
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=TSC2
|position=2072293
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TSC2
}}{{omim
|id=191092
|rsnum=45517214
|variant=0007
}}

{{ClinVar
|rsid=45517214
|Reversed=0
|FwdREF=T
|FwdALT=G
|REF=T
|ALT=G
|RSPOS=2122294
|CHROM=16
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050068000000000102110100
|GENEINFO=TSC2:7249
|GENE_NAME=TSC2
|GENE_ID=7249
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.2122294T>G
|CLNSRC=OMIM Allelic Variant; Tuberous sclerosis database (TSC2)
|CLNORIGIN=1
|CLNSRCID=191092.0007; TSC2_00247
|CLNSIG=5
|CLNCUI=C1860707
|CLNDBN=Tuberous sclerosis 2; Tuberous sclerosis syndrome
|Disease=Tuberous sclerosis 2; Tuberous sclerosis syndrome
|CLNACC=RCV000013207.23; RCV000042452.2
|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|10069705}} Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.

{{PMID|10570911}} Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}