rs45517179 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 9463313]

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 191092.0005




[PMID 16981] [Standard method for the determination of creatine kinase activity].


[PMID 10205261] Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.


[PMID 16114042] Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.


[PMID 16981987] Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

rs45517179

Parent Gene: TSC2

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