rs45483392 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 9302281]

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249]

See also OMIM 191092.0009




[PMID 9302281] The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.


[PMID 10533067] Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.


[PMID 10570911] Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.

rs45483392

Parent Gene: TSC2

Importance: 1
Less common allele: None = None
More common allele: None = None
My Genotype: Log In
Risk Allele: T
Significance: Pathogenic