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: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721 2014
dbSNP: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs137853292
rs137853292
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: rs137853292
rs137853292
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: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Two patients with isolated bilateral retinoblastoma showed missense mutations, S567L and C712R, which have previously been reported in a patient with bilateral tumors and in a family with low penetrance, respectively. 10671068 1998
dbSNP: rs137853292
rs137853292
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: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Genetics of retinoblastoma: a study. 9140452 1997
dbSNP: rs137853292
rs137853292
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: rs137853292
rs137853292
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: rs137853292
rs137853292
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: rs137853292
rs137853292
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: rs137853292
rs137853292
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: rs137853292
rs137853292
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: rs137853292
rs137853292
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
dbSNP: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.800 GeneticVariation UNIPROT Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. 2594029 1989
dbSNP: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.800 CausalMutation CLINVAR