rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
15604628
2004
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma.
8346255
1993
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.
9973307
1999
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.
2594029
1989
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
T
0.800
CausalMutation
CLINVAR
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
7927327
1994
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.
9311732
1997
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
Identification of four novel RB1 germline mutations in Korean retinoblastoma patients.
11524739
2001
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
Genetics of retinoblastoma: a study.
9140452
1997
rs137853292
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.
8605116
1995
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma.
8346255
1993
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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