Variant: rs1064792923

present in Gene: PKD1;TSC2 present in Chromosome: 16 Position on Chromosome: 2088461 Alleles of this Variant: TCCAACCCCAGCCTAC/-

rs1064792923 in PKD1;TSC2 gene and TUBEROUS SCLEROSIS 2 (disorder) PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 25498131 2014 Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

PMID 10205261 1999 Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

PMID 9328481 1997 Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

PMID 24789117 2015 Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.