present in Gene: TSC2
present in Chromosome: 16
Position on Chromosome: 2058765
Alleles of this Variant: -/C
rs137854052 in
TSC2 gene and
Tuberous Sclerosis
PMID 11112665 2001 Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
PMID 11520734 2001 Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.