Rs28934872

rs28934872 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.

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.

See also OMIM 191092.0006

[Effect of the trace element supply on element dependent enzymes in man].

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.

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

Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.