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
T
0.800
CausalMutation
CLINVAR
Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families.
10486322
1999
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
T
0.800
CausalMutation
CLINVAR
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.
12541220
2003
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
T
0.800
CausalMutation
CLINVAR
Genotype-phenotype correlations in hereditary familial retinoblastoma.
17096365
2007
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
T
0.800
CausalMutation
CLINVAR
An E2F binding-deficient Rb1 protein partially rescues developmental defects associated with Rb1 nullizygosity.
16449662
2006
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
T
0.800
CausalMutation
CLINVAR
Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.
1352883
1992
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
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
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
T
0.800
CausalMutation
CLINVAR
Spectrum of RB1 mutations identified in 403 retinoblastoma patients.
24225018
2014
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
T
0.800
CausalMutation
CLINVAR
Growth suppression by an E2F-binding-defective retinoblastoma protein (RB): contribution from the RB C pocket.
9632788
1998
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
rs137853294
×
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
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
Genetics of retinoblastoma: a study.
9140452
1997
rs137853294
×
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
rs137853294
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
Retinoblastoma
0.800
GeneticVariation
UNIPROT
Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.
9311732
1997
rs137853294
×
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
rs137853294
×
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
0.800
GeneticVariation
UNIPROT
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.
2594029
1989
rs137853294
×
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
rs137853294
×
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