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
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
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
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
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
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
24493721
2014
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
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
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
rs121434309
RB1;LPAR6
HYPOTRICHOSIS 8
0.800
GeneticVariation
UNIPROT
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.
18297072
2008
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
"Comment on ""Lowpenetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras"" by Park et al."
18682685
2008
rs879255262
RB1;LPAR6
HYPOTRICHOSIS 8
0.800
GeneticVariation
UNIPROT
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.
18297072
2008
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
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
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
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
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
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
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
rs137853296
×
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
RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.
9973307
1999
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
0.800
GeneticVariation
UNIPROT
RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.
9973307
1999