Variant: rs397515020

present in Gene: TSC2;NTHL1 present in Chromosome: 16 Position on Chromosome: 2048658 Alleles of this Variant: T/-;TT

rs397515020 in TSC2;NTHL1 gene and TUBEROUS SCLEROSIS 2 (disorder) PMID 16835931 2006 Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations.