RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Retinoblastoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. 28575107 2017
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1. 26925970 2016
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR Spectrum of RB1 mutations identified in 403 retinoblastoma patients. 24225018 2014
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations. 23532519 2013
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR Low-penetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras. 18677112 2008
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR "Comment on ""Lowpenetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras"" by Park et al." 18682685 2008
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in hereditary familial retinoblastoma. 17096365 2007
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR An E2F binding-deficient Rb1 protein partially rescues developmental defects associated with Rb1 nullizygosity. 16449662 2006
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR A novel constitutional mutation affecting splicing of retinoblastoma tumor suppressor gene intron 23 causes partial loss of pRB activity. 15643604 2005
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database. 16269091 2005
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220 2003
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Identification of four novel RB1 germline mutations in Korean retinoblastoma patients. 11524739 2001
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families. 10486322 1999
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma. 9973307 1999
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online. 10671068 1998
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR Growth suppression by an E2F-binding-defective retinoblastoma protein (RB): contribution from the RB C pocket. 9632788 1998
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Genetics of retinoblastoma: a study. 9140452 1997
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. 9311732 1997
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene. 8776589 1996
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Germline mutations in the RB1 gene in patients with hereditary retinoblastoma. 8605116 1995
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. 7795591 1995
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. 7704558 1994
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. 7927327 1994
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma. 8346255 1993
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype. 1352883 1992