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: rs587776789
rs587776789
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. 28575107 2017
dbSNP: rs587776789
rs587776789
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: rs587776789
rs587776789
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes. 18000883 2007
dbSNP: rs587776789
rs587776789
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation. 16343894 2006
dbSNP: rs587776789
rs587776789
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. 15884040 2005
dbSNP: rs587776789
rs587776789
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. 14722923 2004
dbSNP: rs587776789
rs587776789
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220 2003
dbSNP: rs587776789
rs587776789
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene. 12016586 2002
dbSNP: rs587776789
rs587776789
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. 8651278 1996
dbSNP: rs587776789
rs587776789
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. 7795591 1995