Variant: rs387906521 

    present in Gene: RB1;RB1-DT
    present in Chromosome: 13
    Position on Chromosome: 48303715
    Alleles of this Variant: G/A

rs387906521 in RB1;RB1-DT gene and Neoplastic Syndromes, Hereditary PMID 1673287 1991 Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene.

PMID 10023315 1998 Age at diagnosis to discriminate those patients for whom constitutional DNA sequencing is appropriate in sporadic unilateral retinoblastoma.

PMID 24225018 2014 Spectrum of RB1 mutations identified in 403 retinoblastoma patients.

PMID 2748600 1989 Structure of the human retinoblastoma gene.

PMID 20447117 2010 Role of genetic testing in retinoblastoma management at a tertiary referral centre.

PMID 1881452 1991 Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene.