Variant: rs1131690863 

    present in Gene: RB1
    present in Chromosome: 13
    Position on Chromosome: 48362847
    Alleles of this Variant: C/T

rs1131690863 in RB1 gene and Neoplastic Syndromes, Hereditary 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.

PMID 21763628 2011 RB1 gene mutations in Iranian patients with retinoblastoma: report of four novel mutations.

PMID 23981928 2013 Rapid detection of RB1 recurrent mutations in retinoblastoma by ARMS-PCR.

PMID 17960112 2007 Ten novel RB1 gene mutations in patients with retinoblastoma.

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

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

rs1131690863 in RB1 gene and Retinoblastoma 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 26539030 2015 Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma.

PMID 24791139 2014 Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

PMID 25928201 2015 Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.

PMID 27582626 2016 Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

PMID 22963398 2013 Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis.

PMID 23595191 2013 Heritable retinoblastoma and accelerated aortic valve disease.

PMID 24688104 2014 RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients.

PMID 26396485 2015 Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.