RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma. 25424699 2015
dbSNP: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945 2015
dbSNP: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201 2015
dbSNP: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients. 26084579 2015
dbSNP: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Detection of mosaic RB1 mutations in families with retinoblastoma. 19280657 2009
dbSNP: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in hereditary familial retinoblastoma. 17096365 2007
dbSNP: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database. 16269091 2005
dbSNP: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations. 12955724 2003
dbSNP: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene. 7981694 1994
dbSNP: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR 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