rs45517214 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 10069705]

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 191092.0007




[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.

rs45517214

Parent Gene: TSC2

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