{{Rsnum
|rsid = 28934872
|Gene = TSC2
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=16
|position=2070571
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TSC2
}}{{omim
|desc=TUBEROUS SCLEROSIS 2
|id=191092
|rsnum=28934872
|variant=0006
}}

{{ClinVar
|rsid=28934872
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=2120572
|CHROM=16
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050068000000000002110100
|GENEINFO=TSC2:7249
|GENE_NAME=TSC2
|GENE_ID=7249
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.2120572G>A
|CLNSRC=OMIM Allelic Variant; Tuberous sclerosis database (TSC2)
|CLNORIGIN=1
|CLNSRCID=191092.0006; TSC2_00105
|CLNSIG=255
|CLNCUI=C1860707
|CLNDBN=Tuberous sclerosis 2; Lymphangioleiomyomatosis, somatic; Tuberous sclerosis syndrome; Lymphangiomyomatosis
|Disease=Tuberous sclerosis 2; Lymphangioleiomyomatosis; Tuberous sclerosis syndrome; Lymphangiomyomatosis
|CLNACC=RCV000013205.16; RCV000013206.2; RCV000042946.2; RCV000055317.1
|Tags=PM;PMC;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:SNOMED_CT; MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1860707:613254:805; NBK1220:C0041341:191100:7199000; C0751674:606690:538:73017001
}}

{{PMID|111126}} [Effect of the trace element supply on element dependent enzymes in man].

{{PMID|9829910}} Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

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

{{PMID|12111193}} TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.

{{PMID|15595939}} Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

{{PMID|16032769}} Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.

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

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}