Variant: rs121913300 

    present in Gene: LOC112268118;RB1
    present in Chromosome: 13
    Position on Chromosome: 48367512
    Alleles of this Variant: C/G;T

rs121913300 in LOC112268118;RB1 gene and Neoplastic Syndromes, Hereditary PMID 27983729 2017 Genetic screening in Iranian patients with retinoblastoma.

PMID 15605413 2005 Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.

PMID 12402348 2002 Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 12541220 2003 Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

PMID 14722923 2004 Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

PMID 8651278 1996 The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.

PMID 7704558 1994 Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.

rs121913300 in LOC112268118;RB1 gene and Retinoblastoma PMID 12541220 2003 Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

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

PMID 25754945 2015 Genetic screening in patients with Retinoblastoma in Israel.

PMID 7704558 1994 Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.

PMID 15605413 2005 Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.

PMID 28575107 2017 Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.